Inherited High Cholesterol Risk
Estimate your risk of Familial Hypercholesterolaemia (FH), an inherited condition that can lead to high cholesterol and early heart disease, using clinical criteria.
Estimate your risk of Familial Hypercholesterolaemia (FH), an inherited condition that can lead to high cholesterol and early heart disease, using clinical criteria.
Based on the Simon Broome and Dutch Lipid Clinic Network criteria
How to use this tool
To use the Hypercholesterolemia Risk Assessment, you will need your recent cholesterol blood test results. You'll also need information about your family medical history, including any relatives who have had heart disease, high cholesterol, genetic testing (if available) or specific physical signs like tendon lumps. The assessment can use either of two well-established clinical criteria to provide you with a comprehensive risk evaluation for Familial Hypercholesterolemia (FH).
LDL Cholesterol: Low-density lipoprotein cholesterol, often called "bad cholesterol," carries cholesterol from your liver to cells throughout your body. When levels are too high, it can build up in artery walls. For FH assessment, two separate measurements are typically needed to confirm consistently high levels.
Tendon Xanthomata: These are cholesterol deposits that appear as firm, painless lumps or thickening in tendons, most commonly on the knuckles of the hands and in the Achilles tendons at the back of the ankle. They may be difficult to notice as the overlying skin appears normal, and they typically develop from age 20 onwards in people with FH (though they can appear earlier in rare cases). Not everyone with FH develops these signs.
Disclaimer: This calculator is for educational and clinical decision support purposes only. It should not replace clinical judgment and must be used in conjunction with complete patient assessment. Always consult with your doctor for definitive diagnosis and treatment recommendations.
What is Familial Hypercholesterolemia?
FH is an inherited genetic condition that causes extremely high cholesterol levels from birth. Unlike high cholesterol that develops later in life due to diet and lifestyle factors, FH is present from birth and affects how your body processes cholesterol, specifically how it removes LDL cholesterol from your blood.
People with FH have a genetic predisposition that impairs their liver's ability to remove LDL cholesterol from their bloodstream effectively. This results in cholesterol levels that are typically much higher than normal, even in children and young adults who maintain healthy lifestyles. Without treatment or specialist input, this leads to accelerated atherosclerosis – the buildup of cholesterol plaques in arteries – which significantly increases the risk of early heart disease.
The condition affects approximately 1 in 250 people worldwide, making it one of the most common genetic disorders. However, it's estimated that up to 90% of people with FH remain undiagnosed, often only discovered when a family member is diagnosed or during health screenings.
What is Familial Hypercholesterolemia?
FH is an inherited genetic condition that causes extremely high cholesterol levels from birth. Unlike high cholesterol that develops later in life due to diet and lifestyle factors, FH is present from birth and affects how your body processes cholesterol, specifically how it removes LDL cholesterol from your blood.
People with FH have a genetic predisposition that impairs their liver's ability to remove LDL cholesterol from their bloodstream effectively. This results in cholesterol levels that are typically much higher than normal, even in children and young adults who maintain healthy lifestyles. Without treatment or specialist input, this leads to accelerated atherosclerosis – the buildup of cholesterol plaques in arteries – which significantly increases the risk of early heart disease.
The condition affects approximately 1 in 250 people worldwide, making it one of the most common genetic disorders. However, it's estimated that up to 90% of people with FH remain undiagnosed, often only discovered when a family member is diagnosed or during health screenings.
What is Familial Hypercholesterolemia?
FH is an inherited genetic condition that causes extremely high cholesterol levels from birth. Unlike high cholesterol that develops later in life due to diet and lifestyle factors, FH is present from birth and affects how your body processes cholesterol, specifically how it removes LDL cholesterol from your blood.
People with FH have a genetic predisposition that impairs their liver's ability to remove LDL cholesterol from their bloodstream effectively. This results in cholesterol levels that are typically much higher than normal, even in children and young adults who maintain healthy lifestyles. Without treatment or specialist input, this leads to accelerated atherosclerosis – the buildup of cholesterol plaques in arteries – which significantly increases the risk of early heart disease.
The condition affects approximately 1 in 250 people worldwide, making it one of the most common genetic disorders. However, it's estimated that up to 90% of people with FH remain undiagnosed, often only discovered when a family member is diagnosed or during health screenings.
What is Familial Hypercholesterolemia?
FH is an inherited genetic condition that causes extremely high cholesterol levels from birth. Unlike high cholesterol that develops later in life due to diet and lifestyle factors, FH is present from birth and affects how your body processes cholesterol, specifically how it removes LDL cholesterol from your blood.
People with FH have a genetic predisposition that impairs their liver's ability to remove LDL cholesterol from their bloodstream effectively. This results in cholesterol levels that are typically much higher than normal, even in children and young adults who maintain healthy lifestyles. Without treatment or specialist input, this leads to accelerated atherosclerosis – the buildup of cholesterol plaques in arteries – which significantly increases the risk of early heart disease.
The condition affects approximately 1 in 250 people worldwide, making it one of the most common genetic disorders. However, it's estimated that up to 90% of people with FH remain undiagnosed, often only discovered when a family member is diagnosed or during health screenings.
Understanding Your Assessment
The Emerald FH Risk Assessment uses two internationally recognized diagnostic criteria – the Simon Broome criteria and the Dutch Lipid Clinic Network criteria – to evaluate your likelihood of having familial hypercholesterolemia. Each system approaches the diagnosis slightly differently but both consider the same key factors.
Definite FH (Simon Broome) / Definite FH (Dutch Lipid Network - Score >8) A result in this category indicates a very high probability that you have familial hypercholesterolemia. This means you have very high cholesterol levels combined with either physical signs of cholesterol deposits, a strong family history of early heart disease or high cholesterol, or genetic testing that confirms a finding. People in this category typically require a specialist referral and usually cholesterol-lowering treatment to prevent cardiovascular issues.
Possible FH (Simon Broome) / Probable FH (Dutch Lipid Network - Score 6-8) This result suggests a significant likelihood of familial hypercholesterolemia, though the evidence isn't quite as definitive as the previous category. You have notably high cholesterol levels along with a relevant family history, but may not have all the clinical signs or genetic confirmation. Further evaluation by a specialist is recommended to confirm the diagnosis and determine appropriate treatment.
Possible FH (Dutch Lipid Network - Score 3-5) This indicates some features suggestive of FH, but the overall likelihood is lower than the previous categories. While you may have elevated cholesterol or some family history concerns, the combination of factors doesn't strongly point to FH. However, monitoring and lifestyle interventions are still important, and specialist evaluation may be worthwhile depending on your specific circumstances.
Unlikely FH (Simon Broome) / Unlikely FH (Dutch Lipid Network - Score <3) This result suggests that familial hypercholesterolemia is unlikely based on current evidence. High cholesterol can occur due to many factors beyond genetics, including diet, lifestyle, other medical conditions, or medications.
Understanding Your Assessment
The Emerald FH Risk Assessment uses two internationally recognized diagnostic criteria – the Simon Broome criteria and the Dutch Lipid Clinic Network criteria – to evaluate your likelihood of having familial hypercholesterolemia. Each system approaches the diagnosis slightly differently but both consider the same key factors.
Definite FH (Simon Broome) / Definite FH (Dutch Lipid Network - Score >8) A result in this category indicates a very high probability that you have familial hypercholesterolemia. This means you have very high cholesterol levels combined with either physical signs of cholesterol deposits, a strong family history of early heart disease or high cholesterol, or genetic testing that confirms a finding. People in this category typically require a specialist referral and usually cholesterol-lowering treatment to prevent cardiovascular issues.
Possible FH (Simon Broome) / Probable FH (Dutch Lipid Network - Score 6-8) This result suggests a significant likelihood of familial hypercholesterolemia, though the evidence isn't quite as definitive as the previous category. You have notably high cholesterol levels along with a relevant family history, but may not have all the clinical signs or genetic confirmation. Further evaluation by a specialist is recommended to confirm the diagnosis and determine appropriate treatment.
Possible FH (Dutch Lipid Network - Score 3-5) This indicates some features suggestive of FH, but the overall likelihood is lower than the previous categories. While you may have elevated cholesterol or some family history concerns, the combination of factors doesn't strongly point to FH. However, monitoring and lifestyle interventions are still important, and specialist evaluation may be worthwhile depending on your specific circumstances.
Unlikely FH (Simon Broome) / Unlikely FH (Dutch Lipid Network - Score <3) This result suggests that familial hypercholesterolemia is unlikely based on current evidence. High cholesterol can occur due to many factors beyond genetics, including diet, lifestyle, other medical conditions, or medications.
Understanding Your Assessment
The Emerald FH Risk Assessment uses two internationally recognized diagnostic criteria – the Simon Broome criteria and the Dutch Lipid Clinic Network criteria – to evaluate your likelihood of having familial hypercholesterolemia. Each system approaches the diagnosis slightly differently but both consider the same key factors.
Definite FH (Simon Broome) / Definite FH (Dutch Lipid Network - Score >8) A result in this category indicates a very high probability that you have familial hypercholesterolemia. This means you have very high cholesterol levels combined with either physical signs of cholesterol deposits, a strong family history of early heart disease or high cholesterol, or genetic testing that confirms a finding. People in this category typically require a specialist referral and usually cholesterol-lowering treatment to prevent cardiovascular issues.
Possible FH (Simon Broome) / Probable FH (Dutch Lipid Network - Score 6-8) This result suggests a significant likelihood of familial hypercholesterolemia, though the evidence isn't quite as definitive as the previous category. You have notably high cholesterol levels along with a relevant family history, but may not have all the clinical signs or genetic confirmation. Further evaluation by a specialist is recommended to confirm the diagnosis and determine appropriate treatment.
Possible FH (Dutch Lipid Network - Score 3-5) This indicates some features suggestive of FH, but the overall likelihood is lower than the previous categories. While you may have elevated cholesterol or some family history concerns, the combination of factors doesn't strongly point to FH. However, monitoring and lifestyle interventions are still important, and specialist evaluation may be worthwhile depending on your specific circumstances.
Unlikely FH (Simon Broome) / Unlikely FH (Dutch Lipid Network - Score <3) This result suggests that familial hypercholesterolemia is unlikely based on current evidence. High cholesterol can occur due to many factors beyond genetics, including diet, lifestyle, other medical conditions, or medications.
Understanding Your Assessment
The Emerald FH Risk Assessment uses two internationally recognized diagnostic criteria – the Simon Broome criteria and the Dutch Lipid Clinic Network criteria – to evaluate your likelihood of having familial hypercholesterolemia. Each system approaches the diagnosis slightly differently but both consider the same key factors.
Definite FH (Simon Broome) / Definite FH (Dutch Lipid Network - Score >8) A result in this category indicates a very high probability that you have familial hypercholesterolemia. This means you have very high cholesterol levels combined with either physical signs of cholesterol deposits, a strong family history of early heart disease or high cholesterol, or genetic testing that confirms a finding. People in this category typically require a specialist referral and usually cholesterol-lowering treatment to prevent cardiovascular issues.
Possible FH (Simon Broome) / Probable FH (Dutch Lipid Network - Score 6-8) This result suggests a significant likelihood of familial hypercholesterolemia, though the evidence isn't quite as definitive as the previous category. You have notably high cholesterol levels along with a relevant family history, but may not have all the clinical signs or genetic confirmation. Further evaluation by a specialist is recommended to confirm the diagnosis and determine appropriate treatment.
Possible FH (Dutch Lipid Network - Score 3-5) This indicates some features suggestive of FH, but the overall likelihood is lower than the previous categories. While you may have elevated cholesterol or some family history concerns, the combination of factors doesn't strongly point to FH. However, monitoring and lifestyle interventions are still important, and specialist evaluation may be worthwhile depending on your specific circumstances.
Unlikely FH (Simon Broome) / Unlikely FH (Dutch Lipid Network - Score <3) This result suggests that familial hypercholesterolemia is unlikely based on current evidence. High cholesterol can occur due to many factors beyond genetics, including diet, lifestyle, other medical conditions, or medications.
The Strengths and Limitations of the Assessment
Understanding the capabilities and limitations of FH risk assessment is crucial for interpreting your results appropriately.
The assessment's primary strength lies in its use of well-validated, internationally recognized criteria that have been refined through decades of clinical research. Both the Simon Broome and Dutch Lipid Network criteria have been extensively tested and are used by specialists worldwide to identify FH patients. The combination of cholesterol levels, family history, physical examination findings, and when available, genetic testing, provides a comprehensive approach to diagnosis.
The assessment is particularly valuable because it can identify a serious genetic condition that might otherwise go unrecognized until after cardiovascular complications develop. Early identification allows for prompt treatment that can dramatically reduce the risk of heart disease and stroke.
However, the assessment does have important limitations. Family history information may be incomplete or inaccurate – many people don't know their relatives' exact cholesterol levels or the precise ages when heart problems occurred. Physical signs like tendon xanthomata may be subtle or mistaken for other conditions, and not everyone with FH develops these signs, especially at younger ages.
Genetic testing, while the most definitive diagnostic tool, is not always readily available and may not detect all possible mutations that cause FH. Additionally, some people may have very high cholesterol levels due to other genetic conditions or secondary causes that can mimic FH. It is important to note, people without a diagnosis of FH and high cholesterol may still require treatment to lower their cholesterol.
The Strengths and Limitations of the Assessment
Understanding the capabilities and limitations of FH risk assessment is crucial for interpreting your results appropriately.
The assessment's primary strength lies in its use of well-validated, internationally recognized criteria that have been refined through decades of clinical research. Both the Simon Broome and Dutch Lipid Network criteria have been extensively tested and are used by specialists worldwide to identify FH patients. The combination of cholesterol levels, family history, physical examination findings, and when available, genetic testing, provides a comprehensive approach to diagnosis.
The assessment is particularly valuable because it can identify a serious genetic condition that might otherwise go unrecognized until after cardiovascular complications develop. Early identification allows for prompt treatment that can dramatically reduce the risk of heart disease and stroke.
However, the assessment does have important limitations. Family history information may be incomplete or inaccurate – many people don't know their relatives' exact cholesterol levels or the precise ages when heart problems occurred. Physical signs like tendon xanthomata may be subtle or mistaken for other conditions, and not everyone with FH develops these signs, especially at younger ages.
Genetic testing, while the most definitive diagnostic tool, is not always readily available and may not detect all possible mutations that cause FH. Additionally, some people may have very high cholesterol levels due to other genetic conditions or secondary causes that can mimic FH. It is important to note, people without a diagnosis of FH and high cholesterol may still require treatment to lower their cholesterol.
The Strengths and Limitations of the Assessment
Understanding the capabilities and limitations of FH risk assessment is crucial for interpreting your results appropriately.
The assessment's primary strength lies in its use of well-validated, internationally recognized criteria that have been refined through decades of clinical research. Both the Simon Broome and Dutch Lipid Network criteria have been extensively tested and are used by specialists worldwide to identify FH patients. The combination of cholesterol levels, family history, physical examination findings, and when available, genetic testing, provides a comprehensive approach to diagnosis.
The assessment is particularly valuable because it can identify a serious genetic condition that might otherwise go unrecognized until after cardiovascular complications develop. Early identification allows for prompt treatment that can dramatically reduce the risk of heart disease and stroke.
However, the assessment does have important limitations. Family history information may be incomplete or inaccurate – many people don't know their relatives' exact cholesterol levels or the precise ages when heart problems occurred. Physical signs like tendon xanthomata may be subtle or mistaken for other conditions, and not everyone with FH develops these signs, especially at younger ages.
Genetic testing, while the most definitive diagnostic tool, is not always readily available and may not detect all possible mutations that cause FH. Additionally, some people may have very high cholesterol levels due to other genetic conditions or secondary causes that can mimic FH. It is important to note, people without a diagnosis of FH and high cholesterol may still require treatment to lower their cholesterol.
The Strengths and Limitations of the Assessment
Understanding the capabilities and limitations of FH risk assessment is crucial for interpreting your results appropriately.
The assessment's primary strength lies in its use of well-validated, internationally recognized criteria that have been refined through decades of clinical research. Both the Simon Broome and Dutch Lipid Network criteria have been extensively tested and are used by specialists worldwide to identify FH patients. The combination of cholesterol levels, family history, physical examination findings, and when available, genetic testing, provides a comprehensive approach to diagnosis.
The assessment is particularly valuable because it can identify a serious genetic condition that might otherwise go unrecognized until after cardiovascular complications develop. Early identification allows for prompt treatment that can dramatically reduce the risk of heart disease and stroke.
However, the assessment does have important limitations. Family history information may be incomplete or inaccurate – many people don't know their relatives' exact cholesterol levels or the precise ages when heart problems occurred. Physical signs like tendon xanthomata may be subtle or mistaken for other conditions, and not everyone with FH develops these signs, especially at younger ages.
Genetic testing, while the most definitive diagnostic tool, is not always readily available and may not detect all possible mutations that cause FH. Additionally, some people may have very high cholesterol levels due to other genetic conditions or secondary causes that can mimic FH. It is important to note, people without a diagnosis of FH and high cholesterol may still require treatment to lower their cholesterol.
What Influences Your Cholesterol Levels and FH Risk?
Several factors affect both your likelihood of having FH and how cholesterol levels impact your health more broadly:
Genetic inheritance patterns are fundamental to understanding FH. The condition is typically inherited in an autosomal dominant pattern, meaning if one parent has FH, each child has a 50% chance of inheriting it. In rare cases, a person can inherit FH mutations from both parents, resulting in a more pronounced form called homozygous FH. However, high cholesterol can also result from other genetic variations that have less dramatic effects than FH mutations.
Other genetic factors beyond FH can significantly influence cholesterol levels. Polygenic hypercholesterolemia involves multiple genetic variants that each have small effects but collectively can cause elevated cholesterol. Unlike FH, this doesn't typically show the same strong family pattern or extremely high cholesterol levels from childhood.
Secondary causes of high cholesterol are important to consider when FH seems unlikely. Medical conditions such as underactive thyroid (hypothyroidism), kidney disease, liver disease, diabetes, and metabolic syndrome can all cause elevated cholesterol levels. Certain medications including steroids can also raise cholesterol. Other factors like excessive alcohol consumption and eating disorders may also affect cholesterol levels.
Dietary factors play a significant role in cholesterol levels, though their impact varies greatly between individuals. Diets high in saturated fats, trans fats, and dietary cholesterol can raise blood cholesterol levels, while diets rich in soluble fiber, plant sterols, and omega-3 fatty acids may help lower them. However, people with FH typically show less response to dietary changes alone compared to those with non-genetic high cholesterol.
Lifestyle factors significantly impact cardiovascular risk regardless of whether high cholesterol is genetic or acquired. Regular physical activity can raise beneficial HDL cholesterol and improve overall lipid profiles. Smoking, excessive alcohol consumption, and being overweight or obese can all worsen cholesterol levels and increase cardiovascular risk.
Metabolic conditions frequently coexist with high cholesterol and compound cardiovascular risks. Metabolic syndrome, characterized by abdominal obesity, insulin resistance, high blood pressure, and abnormal cholesterol levels, significantly increases heart disease risk. Type 2 diabetes often involves lipid abnormalities.
Family history patterns help distinguish between FH and other causes of high cholesterol. FH typically shows very clear patterns of early heart disease and high cholesterol affecting multiple generations, often with cholesterol levels remaining elevated despite healthy lifestyles.
What Influences Your Cholesterol Levels and FH Risk?
Several factors affect both your likelihood of having FH and how cholesterol levels impact your health more broadly:
Genetic inheritance patterns are fundamental to understanding FH. The condition is typically inherited in an autosomal dominant pattern, meaning if one parent has FH, each child has a 50% chance of inheriting it. In rare cases, a person can inherit FH mutations from both parents, resulting in a more pronounced form called homozygous FH. However, high cholesterol can also result from other genetic variations that have less dramatic effects than FH mutations.
Other genetic factors beyond FH can significantly influence cholesterol levels. Polygenic hypercholesterolemia involves multiple genetic variants that each have small effects but collectively can cause elevated cholesterol. Unlike FH, this doesn't typically show the same strong family pattern or extremely high cholesterol levels from childhood.
Secondary causes of high cholesterol are important to consider when FH seems unlikely. Medical conditions such as underactive thyroid (hypothyroidism), kidney disease, liver disease, diabetes, and metabolic syndrome can all cause elevated cholesterol levels. Certain medications including steroids can also raise cholesterol. Other factors like excessive alcohol consumption and eating disorders may also affect cholesterol levels.
Dietary factors play a significant role in cholesterol levels, though their impact varies greatly between individuals. Diets high in saturated fats, trans fats, and dietary cholesterol can raise blood cholesterol levels, while diets rich in soluble fiber, plant sterols, and omega-3 fatty acids may help lower them. However, people with FH typically show less response to dietary changes alone compared to those with non-genetic high cholesterol.
Lifestyle factors significantly impact cardiovascular risk regardless of whether high cholesterol is genetic or acquired. Regular physical activity can raise beneficial HDL cholesterol and improve overall lipid profiles. Smoking, excessive alcohol consumption, and being overweight or obese can all worsen cholesterol levels and increase cardiovascular risk.
Metabolic conditions frequently coexist with high cholesterol and compound cardiovascular risks. Metabolic syndrome, characterized by abdominal obesity, insulin resistance, high blood pressure, and abnormal cholesterol levels, significantly increases heart disease risk. Type 2 diabetes often involves lipid abnormalities.
Family history patterns help distinguish between FH and other causes of high cholesterol. FH typically shows very clear patterns of early heart disease and high cholesterol affecting multiple generations, often with cholesterol levels remaining elevated despite healthy lifestyles.
What Influences Your Cholesterol Levels and FH Risk?
Several factors affect both your likelihood of having FH and how cholesterol levels impact your health more broadly:
Genetic inheritance patterns are fundamental to understanding FH. The condition is typically inherited in an autosomal dominant pattern, meaning if one parent has FH, each child has a 50% chance of inheriting it. In rare cases, a person can inherit FH mutations from both parents, resulting in a more pronounced form called homozygous FH. However, high cholesterol can also result from other genetic variations that have less dramatic effects than FH mutations.
Other genetic factors beyond FH can significantly influence cholesterol levels. Polygenic hypercholesterolemia involves multiple genetic variants that each have small effects but collectively can cause elevated cholesterol. Unlike FH, this doesn't typically show the same strong family pattern or extremely high cholesterol levels from childhood.
Secondary causes of high cholesterol are important to consider when FH seems unlikely. Medical conditions such as underactive thyroid (hypothyroidism), kidney disease, liver disease, diabetes, and metabolic syndrome can all cause elevated cholesterol levels. Certain medications including steroids can also raise cholesterol. Other factors like excessive alcohol consumption and eating disorders may also affect cholesterol levels.
Dietary factors play a significant role in cholesterol levels, though their impact varies greatly between individuals. Diets high in saturated fats, trans fats, and dietary cholesterol can raise blood cholesterol levels, while diets rich in soluble fiber, plant sterols, and omega-3 fatty acids may help lower them. However, people with FH typically show less response to dietary changes alone compared to those with non-genetic high cholesterol.
Lifestyle factors significantly impact cardiovascular risk regardless of whether high cholesterol is genetic or acquired. Regular physical activity can raise beneficial HDL cholesterol and improve overall lipid profiles. Smoking, excessive alcohol consumption, and being overweight or obese can all worsen cholesterol levels and increase cardiovascular risk.
Metabolic conditions frequently coexist with high cholesterol and compound cardiovascular risks. Metabolic syndrome, characterized by abdominal obesity, insulin resistance, high blood pressure, and abnormal cholesterol levels, significantly increases heart disease risk. Type 2 diabetes often involves lipid abnormalities.
Family history patterns help distinguish between FH and other causes of high cholesterol. FH typically shows very clear patterns of early heart disease and high cholesterol affecting multiple generations, often with cholesterol levels remaining elevated despite healthy lifestyles.
What Influences Your Cholesterol Levels and FH Risk?
Several factors affect both your likelihood of having FH and how cholesterol levels impact your health more broadly:
Genetic inheritance patterns are fundamental to understanding FH. The condition is typically inherited in an autosomal dominant pattern, meaning if one parent has FH, each child has a 50% chance of inheriting it. In rare cases, a person can inherit FH mutations from both parents, resulting in a more pronounced form called homozygous FH. However, high cholesterol can also result from other genetic variations that have less dramatic effects than FH mutations.
Other genetic factors beyond FH can significantly influence cholesterol levels. Polygenic hypercholesterolemia involves multiple genetic variants that each have small effects but collectively can cause elevated cholesterol. Unlike FH, this doesn't typically show the same strong family pattern or extremely high cholesterol levels from childhood.
Secondary causes of high cholesterol are important to consider when FH seems unlikely. Medical conditions such as underactive thyroid (hypothyroidism), kidney disease, liver disease, diabetes, and metabolic syndrome can all cause elevated cholesterol levels. Certain medications including steroids can also raise cholesterol. Other factors like excessive alcohol consumption and eating disorders may also affect cholesterol levels.
Dietary factors play a significant role in cholesterol levels, though their impact varies greatly between individuals. Diets high in saturated fats, trans fats, and dietary cholesterol can raise blood cholesterol levels, while diets rich in soluble fiber, plant sterols, and omega-3 fatty acids may help lower them. However, people with FH typically show less response to dietary changes alone compared to those with non-genetic high cholesterol.
Lifestyle factors significantly impact cardiovascular risk regardless of whether high cholesterol is genetic or acquired. Regular physical activity can raise beneficial HDL cholesterol and improve overall lipid profiles. Smoking, excessive alcohol consumption, and being overweight or obese can all worsen cholesterol levels and increase cardiovascular risk.
Metabolic conditions frequently coexist with high cholesterol and compound cardiovascular risks. Metabolic syndrome, characterized by abdominal obesity, insulin resistance, high blood pressure, and abnormal cholesterol levels, significantly increases heart disease risk. Type 2 diabetes often involves lipid abnormalities.
Family history patterns help distinguish between FH and other causes of high cholesterol. FH typically shows very clear patterns of early heart disease and high cholesterol affecting multiple generations, often with cholesterol levels remaining elevated despite healthy lifestyles.
Moving Forward with Your Results
Your FH risk assessment results should be viewed as an important step in understanding your cardiovascular health.
If your assessment suggests possible, probable, or definite FH, it's important to explore this further with your doctor if this is a new finding for you. FH is highly treatable when identified. Modern cholesterol-lowering medications can reduce cholesterol levels dramatically and significantly decrease the risk of heart disease.
If your results suggest FH is unlikely, this doesn't mean your cholesterol levels or cardiovascular health should be ignored. High cholesterol from any cause increases cardiovascular risk. Sometimes treating an underlying condition can normalise cholesterol levels naturally. Maintaining awareness of your cholesterol levels and cardiovascular risk factors remains important. Regular health screenings and healthy lifestyle habits benefit everyone, regardless of genetic predisposition or current cholesterol levels.
If you are diagnosed with FH, it's important that your direct family members also check their cholesterol levels, as they may also be at risk.
The Importance of Early Detection
Familial hypercholesterolemia represents one of the clearest examples of how genetic testing and early intervention can dramatically improve health outcomes. When identified early and treated appropriately, people with FH can reduce their cardiovascular risk over time.
Moving Forward with Your Results
Your FH risk assessment results should be viewed as an important step in understanding your cardiovascular health.
If your assessment suggests possible, probable, or definite FH, it's important to explore this further with your doctor if this is a new finding for you. FH is highly treatable when identified. Modern cholesterol-lowering medications can reduce cholesterol levels dramatically and significantly decrease the risk of heart disease.
If your results suggest FH is unlikely, this doesn't mean your cholesterol levels or cardiovascular health should be ignored. High cholesterol from any cause increases cardiovascular risk. Sometimes treating an underlying condition can normalise cholesterol levels naturally. Maintaining awareness of your cholesterol levels and cardiovascular risk factors remains important. Regular health screenings and healthy lifestyle habits benefit everyone, regardless of genetic predisposition or current cholesterol levels.
If you are diagnosed with FH, it's important that your direct family members also check their cholesterol levels, as they may also be at risk.
The Importance of Early Detection
Familial hypercholesterolemia represents one of the clearest examples of how genetic testing and early intervention can dramatically improve health outcomes. When identified early and treated appropriately, people with FH can reduce their cardiovascular risk over time.
Moving Forward with Your Results
Your FH risk assessment results should be viewed as an important step in understanding your cardiovascular health.
If your assessment suggests possible, probable, or definite FH, it's important to explore this further with your doctor if this is a new finding for you. FH is highly treatable when identified. Modern cholesterol-lowering medications can reduce cholesterol levels dramatically and significantly decrease the risk of heart disease.
If your results suggest FH is unlikely, this doesn't mean your cholesterol levels or cardiovascular health should be ignored. High cholesterol from any cause increases cardiovascular risk. Sometimes treating an underlying condition can normalise cholesterol levels naturally. Maintaining awareness of your cholesterol levels and cardiovascular risk factors remains important. Regular health screenings and healthy lifestyle habits benefit everyone, regardless of genetic predisposition or current cholesterol levels.
If you are diagnosed with FH, it's important that your direct family members also check their cholesterol levels, as they may also be at risk.
The Importance of Early Detection
Familial hypercholesterolemia represents one of the clearest examples of how genetic testing and early intervention can dramatically improve health outcomes. When identified early and treated appropriately, people with FH can reduce their cardiovascular risk over time.
Moving Forward with Your Results
Your FH risk assessment results should be viewed as an important step in understanding your cardiovascular health.
If your assessment suggests possible, probable, or definite FH, it's important to explore this further with your doctor if this is a new finding for you. FH is highly treatable when identified. Modern cholesterol-lowering medications can reduce cholesterol levels dramatically and significantly decrease the risk of heart disease.
If your results suggest FH is unlikely, this doesn't mean your cholesterol levels or cardiovascular health should be ignored. High cholesterol from any cause increases cardiovascular risk. Sometimes treating an underlying condition can normalise cholesterol levels naturally. Maintaining awareness of your cholesterol levels and cardiovascular risk factors remains important. Regular health screenings and healthy lifestyle habits benefit everyone, regardless of genetic predisposition or current cholesterol levels.
If you are diagnosed with FH, it's important that your direct family members also check their cholesterol levels, as they may also be at risk.
The Importance of Early Detection
Familial hypercholesterolemia represents one of the clearest examples of how genetic testing and early intervention can dramatically improve health outcomes. When identified early and treated appropriately, people with FH can reduce their cardiovascular risk over time.
Your Partner in Preventive Health
At Emerald, we believe that genetic conditions like familial hypercholesterolemia shouldn't be discovered only after health consequences occur. Our FH Risk Assessment represents our commitment to making health evaluations accessible and understandable, empowering you to take proactive steps in managing your cardiovascular health.
Remember, this assessment is meant to inform and guide, not to replace professional medical advice. Always discuss your results with a qualified healthcare provider who can consider your complete health picture, conduct appropriate physical examinations, order additional testing if needed, and help you develop a personalised plan for managing your cardiovascular health.
Whether your results suggest FH is likely or unlikely, you're taking an important step by being proactive about understanding your cardiovascular risks. This knowledge empowers you to make informed decisions about your health care and take preventive measures that can make a significant difference in your long-term wellbeing.
Your Partner in Preventive Health
At Emerald, we believe that genetic conditions like familial hypercholesterolemia shouldn't be discovered only after health consequences occur. Our FH Risk Assessment represents our commitment to making health evaluations accessible and understandable, empowering you to take proactive steps in managing your cardiovascular health.
Remember, this assessment is meant to inform and guide, not to replace professional medical advice. Always discuss your results with a qualified healthcare provider who can consider your complete health picture, conduct appropriate physical examinations, order additional testing if needed, and help you develop a personalised plan for managing your cardiovascular health.
Whether your results suggest FH is likely or unlikely, you're taking an important step by being proactive about understanding your cardiovascular risks. This knowledge empowers you to make informed decisions about your health care and take preventive measures that can make a significant difference in your long-term wellbeing.
Your Partner in Preventive Health
At Emerald, we believe that genetic conditions like familial hypercholesterolemia shouldn't be discovered only after health consequences occur. Our FH Risk Assessment represents our commitment to making health evaluations accessible and understandable, empowering you to take proactive steps in managing your cardiovascular health.
Remember, this assessment is meant to inform and guide, not to replace professional medical advice. Always discuss your results with a qualified healthcare provider who can consider your complete health picture, conduct appropriate physical examinations, order additional testing if needed, and help you develop a personalised plan for managing your cardiovascular health.
Whether your results suggest FH is likely or unlikely, you're taking an important step by being proactive about understanding your cardiovascular risks. This knowledge empowers you to make informed decisions about your health care and take preventive measures that can make a significant difference in your long-term wellbeing.
Your Partner in Preventive Health
At Emerald, we believe that genetic conditions like familial hypercholesterolemia shouldn't be discovered only after health consequences occur. Our FH Risk Assessment represents our commitment to making health evaluations accessible and understandable, empowering you to take proactive steps in managing your cardiovascular health.
Remember, this assessment is meant to inform and guide, not to replace professional medical advice. Always discuss your results with a qualified healthcare provider who can consider your complete health picture, conduct appropriate physical examinations, order additional testing if needed, and help you develop a personalised plan for managing your cardiovascular health.
Whether your results suggest FH is likely or unlikely, you're taking an important step by being proactive about understanding your cardiovascular risks. This knowledge empowers you to make informed decisions about your health care and take preventive measures that can make a significant difference in your long-term wellbeing.
References
Austin MA, et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation. 2000;101(24):2777-82.
National Institute for Health and Care Excellence. Familial hypercholesterolaemia: identification and management. NICE guideline [CG71]. 2019. Available from: https://www.nice.org.uk/guidance/cg71
Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal. 2013;34(45):3478-90.
Watts GF, et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nature Reviews Cardiology. 2020;17(6):360-77.
Goldberg AC, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. Journal of Clinical Lipidology. 2011;5(3):133-40.
Gidding SS, et al. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015;132(22):2167-92.
Cuchel M, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. European Heart Journal. 2014;35(32):2146-57.
References
Austin MA, et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation. 2000;101(24):2777-82.
National Institute for Health and Care Excellence. Familial hypercholesterolaemia: identification and management. NICE guideline [CG71]. 2019. Available from: https://www.nice.org.uk/guidance/cg71
Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal. 2013;34(45):3478-90.
Watts GF, et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nature Reviews Cardiology. 2020;17(6):360-77.
Goldberg AC, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. Journal of Clinical Lipidology. 2011;5(3):133-40.
Gidding SS, et al. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015;132(22):2167-92.
Cuchel M, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. European Heart Journal. 2014;35(32):2146-57.
References
Austin MA, et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation. 2000;101(24):2777-82.
National Institute for Health and Care Excellence. Familial hypercholesterolaemia: identification and management. NICE guideline [CG71]. 2019. Available from: https://www.nice.org.uk/guidance/cg71
Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal. 2013;34(45):3478-90.
Watts GF, et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nature Reviews Cardiology. 2020;17(6):360-77.
Goldberg AC, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. Journal of Clinical Lipidology. 2011;5(3):133-40.
Gidding SS, et al. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015;132(22):2167-92.
Cuchel M, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. European Heart Journal. 2014;35(32):2146-57.
References
Austin MA, et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation. 2000;101(24):2777-82.
National Institute for Health and Care Excellence. Familial hypercholesterolaemia: identification and management. NICE guideline [CG71]. 2019. Available from: https://www.nice.org.uk/guidance/cg71
Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal. 2013;34(45):3478-90.
Watts GF, et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nature Reviews Cardiology. 2020;17(6):360-77.
Goldberg AC, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. Journal of Clinical Lipidology. 2011;5(3):133-40.
Gidding SS, et al. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015;132(22):2167-92.
Cuchel M, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. European Heart Journal. 2014;35(32):2146-57.
What is Familial Hypercholesterolemia?
FH is an inherited genetic condition that causes extremely high cholesterol levels from birth. Unlike high cholesterol that develops later in life due to diet and lifestyle factors, FH is present from birth and affects how your body processes cholesterol, specifically how it removes LDL cholesterol from your blood.
People with FH have a genetic predisposition that impairs their liver's ability to remove LDL cholesterol from their bloodstream effectively. This results in cholesterol levels that are typically much higher than normal, even in children and young adults who maintain healthy lifestyles. Without treatment or specialist input, this leads to accelerated atherosclerosis – the buildup of cholesterol plaques in arteries – which significantly increases the risk of early heart disease.
The condition affects approximately 1 in 250 people worldwide, making it one of the most common genetic disorders. However, it's estimated that up to 90% of people with FH remain undiagnosed, often only discovered when a family member is diagnosed or during health screenings.
What is Familial Hypercholesterolemia?
FH is an inherited genetic condition that causes extremely high cholesterol levels from birth. Unlike high cholesterol that develops later in life due to diet and lifestyle factors, FH is present from birth and affects how your body processes cholesterol, specifically how it removes LDL cholesterol from your blood.
People with FH have a genetic predisposition that impairs their liver's ability to remove LDL cholesterol from their bloodstream effectively. This results in cholesterol levels that are typically much higher than normal, even in children and young adults who maintain healthy lifestyles. Without treatment or specialist input, this leads to accelerated atherosclerosis – the buildup of cholesterol plaques in arteries – which significantly increases the risk of early heart disease.
The condition affects approximately 1 in 250 people worldwide, making it one of the most common genetic disorders. However, it's estimated that up to 90% of people with FH remain undiagnosed, often only discovered when a family member is diagnosed or during health screenings.
Understanding Your Assessment
The Emerald FH Risk Assessment uses two internationally recognized diagnostic criteria – the Simon Broome criteria and the Dutch Lipid Clinic Network criteria – to evaluate your likelihood of having familial hypercholesterolemia. Each system approaches the diagnosis slightly differently but both consider the same key factors.
Definite FH (Simon Broome) / Definite FH (Dutch Lipid Network - Score >8) A result in this category indicates a very high probability that you have familial hypercholesterolemia. This means you have very high cholesterol levels combined with either physical signs of cholesterol deposits, a strong family history of early heart disease or high cholesterol, or genetic testing that confirms a finding. People in this category typically require a specialist referral and usually cholesterol-lowering treatment to prevent cardiovascular issues.
Possible FH (Simon Broome) / Probable FH (Dutch Lipid Network - Score 6-8) This result suggests a significant likelihood of familial hypercholesterolemia, though the evidence isn't quite as definitive as the previous category. You have notably high cholesterol levels along with a relevant family history, but may not have all the clinical signs or genetic confirmation. Further evaluation by a specialist is recommended to confirm the diagnosis and determine appropriate treatment.
Possible FH (Dutch Lipid Network - Score 3-5) This indicates some features suggestive of FH, but the overall likelihood is lower than the previous categories. While you may have elevated cholesterol or some family history concerns, the combination of factors doesn't strongly point to FH. However, monitoring and lifestyle interventions are still important, and specialist evaluation may be worthwhile depending on your specific circumstances.
Unlikely FH (Simon Broome) / Unlikely FH (Dutch Lipid Network - Score <3) This result suggests that familial hypercholesterolemia is unlikely based on current evidence. High cholesterol can occur due to many factors beyond genetics, including diet, lifestyle, other medical conditions, or medications.
Understanding Your Assessment
The Emerald FH Risk Assessment uses two internationally recognized diagnostic criteria – the Simon Broome criteria and the Dutch Lipid Clinic Network criteria – to evaluate your likelihood of having familial hypercholesterolemia. Each system approaches the diagnosis slightly differently but both consider the same key factors.
Definite FH (Simon Broome) / Definite FH (Dutch Lipid Network - Score >8) A result in this category indicates a very high probability that you have familial hypercholesterolemia. This means you have very high cholesterol levels combined with either physical signs of cholesterol deposits, a strong family history of early heart disease or high cholesterol, or genetic testing that confirms a finding. People in this category typically require a specialist referral and usually cholesterol-lowering treatment to prevent cardiovascular issues.
Possible FH (Simon Broome) / Probable FH (Dutch Lipid Network - Score 6-8) This result suggests a significant likelihood of familial hypercholesterolemia, though the evidence isn't quite as definitive as the previous category. You have notably high cholesterol levels along with a relevant family history, but may not have all the clinical signs or genetic confirmation. Further evaluation by a specialist is recommended to confirm the diagnosis and determine appropriate treatment.
Possible FH (Dutch Lipid Network - Score 3-5) This indicates some features suggestive of FH, but the overall likelihood is lower than the previous categories. While you may have elevated cholesterol or some family history concerns, the combination of factors doesn't strongly point to FH. However, monitoring and lifestyle interventions are still important, and specialist evaluation may be worthwhile depending on your specific circumstances.
Unlikely FH (Simon Broome) / Unlikely FH (Dutch Lipid Network - Score <3) This result suggests that familial hypercholesterolemia is unlikely based on current evidence. High cholesterol can occur due to many factors beyond genetics, including diet, lifestyle, other medical conditions, or medications.
The Strengths and Limitations of the Assessment
Understanding the capabilities and limitations of FH risk assessment is crucial for interpreting your results appropriately.
The assessment's primary strength lies in its use of well-validated, internationally recognized criteria that have been refined through decades of clinical research. Both the Simon Broome and Dutch Lipid Network criteria have been extensively tested and are used by specialists worldwide to identify FH patients. The combination of cholesterol levels, family history, physical examination findings, and when available, genetic testing, provides a comprehensive approach to diagnosis.
The assessment is particularly valuable because it can identify a serious genetic condition that might otherwise go unrecognized until after cardiovascular complications develop. Early identification allows for prompt treatment that can dramatically reduce the risk of heart disease and stroke.
However, the assessment does have important limitations. Family history information may be incomplete or inaccurate – many people don't know their relatives' exact cholesterol levels or the precise ages when heart problems occurred. Physical signs like tendon xanthomata may be subtle or mistaken for other conditions, and not everyone with FH develops these signs, especially at younger ages.
Genetic testing, while the most definitive diagnostic tool, is not always readily available and may not detect all possible mutations that cause FH. Additionally, some people may have very high cholesterol levels due to other genetic conditions or secondary causes that can mimic FH. It is important to note, people without a diagnosis of FH and high cholesterol may still require treatment to lower their cholesterol.
The Strengths and Limitations of the Assessment
Understanding the capabilities and limitations of FH risk assessment is crucial for interpreting your results appropriately.
The assessment's primary strength lies in its use of well-validated, internationally recognized criteria that have been refined through decades of clinical research. Both the Simon Broome and Dutch Lipid Network criteria have been extensively tested and are used by specialists worldwide to identify FH patients. The combination of cholesterol levels, family history, physical examination findings, and when available, genetic testing, provides a comprehensive approach to diagnosis.
The assessment is particularly valuable because it can identify a serious genetic condition that might otherwise go unrecognized until after cardiovascular complications develop. Early identification allows for prompt treatment that can dramatically reduce the risk of heart disease and stroke.
However, the assessment does have important limitations. Family history information may be incomplete or inaccurate – many people don't know their relatives' exact cholesterol levels or the precise ages when heart problems occurred. Physical signs like tendon xanthomata may be subtle or mistaken for other conditions, and not everyone with FH develops these signs, especially at younger ages.
Genetic testing, while the most definitive diagnostic tool, is not always readily available and may not detect all possible mutations that cause FH. Additionally, some people may have very high cholesterol levels due to other genetic conditions or secondary causes that can mimic FH. It is important to note, people without a diagnosis of FH and high cholesterol may still require treatment to lower their cholesterol.
What Influences Your Cholesterol Levels and FH Risk?
Several factors affect both your likelihood of having FH and how cholesterol levels impact your health more broadly:
Genetic inheritance patterns are fundamental to understanding FH. The condition is typically inherited in an autosomal dominant pattern, meaning if one parent has FH, each child has a 50% chance of inheriting it. In rare cases, a person can inherit FH mutations from both parents, resulting in a more pronounced form called homozygous FH. However, high cholesterol can also result from other genetic variations that have less dramatic effects than FH mutations.
Other genetic factors beyond FH can significantly influence cholesterol levels. Polygenic hypercholesterolemia involves multiple genetic variants that each have small effects but collectively can cause elevated cholesterol. Unlike FH, this doesn't typically show the same strong family pattern or extremely high cholesterol levels from childhood.
Secondary causes of high cholesterol are important to consider when FH seems unlikely. Medical conditions such as underactive thyroid (hypothyroidism), kidney disease, liver disease, diabetes, and metabolic syndrome can all cause elevated cholesterol levels. Certain medications including steroids can also raise cholesterol. Other factors like excessive alcohol consumption and eating disorders may also affect cholesterol levels.
Dietary factors play a significant role in cholesterol levels, though their impact varies greatly between individuals. Diets high in saturated fats, trans fats, and dietary cholesterol can raise blood cholesterol levels, while diets rich in soluble fiber, plant sterols, and omega-3 fatty acids may help lower them. However, people with FH typically show less response to dietary changes alone compared to those with non-genetic high cholesterol.
Lifestyle factors significantly impact cardiovascular risk regardless of whether high cholesterol is genetic or acquired. Regular physical activity can raise beneficial HDL cholesterol and improve overall lipid profiles. Smoking, excessive alcohol consumption, and being overweight or obese can all worsen cholesterol levels and increase cardiovascular risk.
Metabolic conditions frequently coexist with high cholesterol and compound cardiovascular risks. Metabolic syndrome, characterized by abdominal obesity, insulin resistance, high blood pressure, and abnormal cholesterol levels, significantly increases heart disease risk. Type 2 diabetes often involves lipid abnormalities.
Family history patterns help distinguish between FH and other causes of high cholesterol. FH typically shows very clear patterns of early heart disease and high cholesterol affecting multiple generations, often with cholesterol levels remaining elevated despite healthy lifestyles.
What Influences Your Cholesterol Levels and FH Risk?
Several factors affect both your likelihood of having FH and how cholesterol levels impact your health more broadly:
Genetic inheritance patterns are fundamental to understanding FH. The condition is typically inherited in an autosomal dominant pattern, meaning if one parent has FH, each child has a 50% chance of inheriting it. In rare cases, a person can inherit FH mutations from both parents, resulting in a more pronounced form called homozygous FH. However, high cholesterol can also result from other genetic variations that have less dramatic effects than FH mutations.
Other genetic factors beyond FH can significantly influence cholesterol levels. Polygenic hypercholesterolemia involves multiple genetic variants that each have small effects but collectively can cause elevated cholesterol. Unlike FH, this doesn't typically show the same strong family pattern or extremely high cholesterol levels from childhood.
Secondary causes of high cholesterol are important to consider when FH seems unlikely. Medical conditions such as underactive thyroid (hypothyroidism), kidney disease, liver disease, diabetes, and metabolic syndrome can all cause elevated cholesterol levels. Certain medications including steroids can also raise cholesterol. Other factors like excessive alcohol consumption and eating disorders may also affect cholesterol levels.
Dietary factors play a significant role in cholesterol levels, though their impact varies greatly between individuals. Diets high in saturated fats, trans fats, and dietary cholesterol can raise blood cholesterol levels, while diets rich in soluble fiber, plant sterols, and omega-3 fatty acids may help lower them. However, people with FH typically show less response to dietary changes alone compared to those with non-genetic high cholesterol.
Lifestyle factors significantly impact cardiovascular risk regardless of whether high cholesterol is genetic or acquired. Regular physical activity can raise beneficial HDL cholesterol and improve overall lipid profiles. Smoking, excessive alcohol consumption, and being overweight or obese can all worsen cholesterol levels and increase cardiovascular risk.
Metabolic conditions frequently coexist with high cholesterol and compound cardiovascular risks. Metabolic syndrome, characterized by abdominal obesity, insulin resistance, high blood pressure, and abnormal cholesterol levels, significantly increases heart disease risk. Type 2 diabetes often involves lipid abnormalities.
Family history patterns help distinguish between FH and other causes of high cholesterol. FH typically shows very clear patterns of early heart disease and high cholesterol affecting multiple generations, often with cholesterol levels remaining elevated despite healthy lifestyles.
Moving Forward with Your Results
Your FH risk assessment results should be viewed as an important step in understanding your cardiovascular health.
If your assessment suggests possible, probable, or definite FH, it's important to explore this further with your doctor if this is a new finding for you. FH is highly treatable when identified. Modern cholesterol-lowering medications can reduce cholesterol levels dramatically and significantly decrease the risk of heart disease.
If your results suggest FH is unlikely, this doesn't mean your cholesterol levels or cardiovascular health should be ignored. High cholesterol from any cause increases cardiovascular risk. Sometimes treating an underlying condition can normalise cholesterol levels naturally. Maintaining awareness of your cholesterol levels and cardiovascular risk factors remains important. Regular health screenings and healthy lifestyle habits benefit everyone, regardless of genetic predisposition or current cholesterol levels.
If you are diagnosed with FH, it's important that your direct family members also check their cholesterol levels, as they may also be at risk.
The Importance of Early Detection
Familial hypercholesterolemia represents one of the clearest examples of how genetic testing and early intervention can dramatically improve health outcomes. When identified early and treated appropriately, people with FH can reduce their cardiovascular risk over time.
Moving Forward with Your Results
Your FH risk assessment results should be viewed as an important step in understanding your cardiovascular health.
If your assessment suggests possible, probable, or definite FH, it's important to explore this further with your doctor if this is a new finding for you. FH is highly treatable when identified. Modern cholesterol-lowering medications can reduce cholesterol levels dramatically and significantly decrease the risk of heart disease.
If your results suggest FH is unlikely, this doesn't mean your cholesterol levels or cardiovascular health should be ignored. High cholesterol from any cause increases cardiovascular risk. Sometimes treating an underlying condition can normalise cholesterol levels naturally. Maintaining awareness of your cholesterol levels and cardiovascular risk factors remains important. Regular health screenings and healthy lifestyle habits benefit everyone, regardless of genetic predisposition or current cholesterol levels.
If you are diagnosed with FH, it's important that your direct family members also check their cholesterol levels, as they may also be at risk.
The Importance of Early Detection
Familial hypercholesterolemia represents one of the clearest examples of how genetic testing and early intervention can dramatically improve health outcomes. When identified early and treated appropriately, people with FH can reduce their cardiovascular risk over time.
Your Partner in Preventive Health
At Emerald, we believe that genetic conditions like familial hypercholesterolemia shouldn't be discovered only after health consequences occur. Our FH Risk Assessment represents our commitment to making health evaluations accessible and understandable, empowering you to take proactive steps in managing your cardiovascular health.
Remember, this assessment is meant to inform and guide, not to replace professional medical advice. Always discuss your results with a qualified healthcare provider who can consider your complete health picture, conduct appropriate physical examinations, order additional testing if needed, and help you develop a personalised plan for managing your cardiovascular health.
Whether your results suggest FH is likely or unlikely, you're taking an important step by being proactive about understanding your cardiovascular risks. This knowledge empowers you to make informed decisions about your health care and take preventive measures that can make a significant difference in your long-term wellbeing.
Your Partner in Preventive Health
At Emerald, we believe that genetic conditions like familial hypercholesterolemia shouldn't be discovered only after health consequences occur. Our FH Risk Assessment represents our commitment to making health evaluations accessible and understandable, empowering you to take proactive steps in managing your cardiovascular health.
Remember, this assessment is meant to inform and guide, not to replace professional medical advice. Always discuss your results with a qualified healthcare provider who can consider your complete health picture, conduct appropriate physical examinations, order additional testing if needed, and help you develop a personalised plan for managing your cardiovascular health.
Whether your results suggest FH is likely or unlikely, you're taking an important step by being proactive about understanding your cardiovascular risks. This knowledge empowers you to make informed decisions about your health care and take preventive measures that can make a significant difference in your long-term wellbeing.
References
Austin MA, et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation. 2000;101(24):2777-82.
National Institute for Health and Care Excellence. Familial hypercholesterolaemia: identification and management. NICE guideline [CG71]. 2019. Available from: https://www.nice.org.uk/guidance/cg71
Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal. 2013;34(45):3478-90.
Watts GF, et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nature Reviews Cardiology. 2020;17(6):360-77.
Goldberg AC, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. Journal of Clinical Lipidology. 2011;5(3):133-40.
Gidding SS, et al. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015;132(22):2167-92.
Cuchel M, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. European Heart Journal. 2014;35(32):2146-57.
References
Austin MA, et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation. 2000;101(24):2777-82.
National Institute for Health and Care Excellence. Familial hypercholesterolaemia: identification and management. NICE guideline [CG71]. 2019. Available from: https://www.nice.org.uk/guidance/cg71
Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal. 2013;34(45):3478-90.
Watts GF, et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nature Reviews Cardiology. 2020;17(6):360-77.
Goldberg AC, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. Journal of Clinical Lipidology. 2011;5(3):133-40.
Gidding SS, et al. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015;132(22):2167-92.
Cuchel M, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. European Heart Journal. 2014;35(32):2146-57.
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© 2025 Emerald Labs Ltd
Subscribe to our newsletter
© 2025 Emerald Labs Ltd
Subscribe to our newsletter
© 2025 Emerald Labs Ltd