What it is
Familial hypercholesterolemia (often shortened to FH) is a genetic condition passed down in families. It affects how the body clears a type of cholesterol, often called "bad" or LDL cholesterol, from the blood. Because this can be present from birth, cholesterol may stay high for many years.
Over time, long-term exposure to high cholesterol can contribute to cholesterol building up in the arteries. That is why the condition is linked with a higher chance of coronary artery disease and heart attack at younger ages than many people expect. Having FH does not mean a heart problem will definitely happen.
Many people with FH do not know they have it. Clues may include high cholesterol that runs in the family, relatives with early heart disease, or cholesterol-related signs on the body that a clinician may notice during an exam. Only a licensed clinician can evaluate whether FH is a possibility for you.
How it’s traditionally been approached
Traditionally, familial hypercholesterolemia has been looked at through personal and family health history, a physical exam, and a lipid panel, which is a standard bloodwork test that measures cholesterol. Clinicians may use these pieces together to decide whether FH is likely.
Genetic heart testing is another tool that may be used. It looks for variants in genes linked with cholesterol handling. It shows risk or carrier status and does not diagnose heart disease by itself. A negative result does not rule out risk, and a variant of uncertain significance is not a diagnosis.
Care has often included lifestyle conversations and, when a clinician decides it is appropriate, medical therapy. What fits any one person is decided by a licensed clinician after an evaluation. When a disease-causing variant is found, cascade testing, which means offering testing to biological relatives, is commonly discussed.
How the right cardiologist may help
The right cardiologist, or a lipid specialist with experience in inherited cholesterol conditions, may help you make sense of your numbers in the context of your whole story. A first visit often involves reviewing your personal and family history, talking through symptoms or concerns, a physical exam, and looking at bloodwork and possibly imaging.
If genetic heart testing comes up, a cardiologist or genetic counselor may explain what the test can and cannot tell you. Genetic counseling is generally recommended before and after testing. Licensing for genetic counselors varies by state, so it is fair to ask about their credentials.
Questions you might ask: Could my history point to familial hypercholesterolemia? Would genetic testing be useful for me or my family? How would results be interpreted? Which relatives might consider cascade testing? How might the results affect insurance? GINA protects against genetic discrimination in health insurance and employment in the US, but it does not cover life, disability or long-term-care insurance, so ask about those before testing. Also confirm coverage with your insurer and provider, since it varies by insurer, state and diagnosis.
The whole-person view
Body, mind and stress affect each other. Learning that a condition runs in your family can bring up worry, guilt, or concern for children and relatives, and ongoing stress can in turn affect sleep, habits and how the body feels. Paying attention to the whole person is a normal part of caring for your heart.
Some people find body-based support helpful, such as the approaches offered through Somatic Experiences. Others value talking with a licensed professional through Therapists.plus. Neither replaces medical care, and no approach is better than another; they can simply sit alongside the guidance of your cardiologist.
Somatic Experiences: nervous system regulation →Somatic Experiences: embodiment and movement →Therapists.plus: anxiety panic and ocd →Therapists.plus: mind body connection →
Keep in mind
- This page is educational only and is not medical advice, a diagnosis, or a treatment plan.
- Genetic tests show risk or carrier status, do not diagnose heart disease on their own, and must be interpreted with history, exam, imaging and bloodwork by a qualified professional.
- No test or treatment can promise to prevent a heart attack or sudden cardiac death, and licensed professionals should guide all care.
- For emergencies such as chest pain, call 911. If you are in emotional crisis, call or text 988.
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Frequently asked questions
What is familial hypercholesterolemia?
Familial hypercholesterolemia is an inherited condition that affects how the body clears LDL cholesterol from the blood, which can lead to high cholesterol from an early age. It can raise the chance of coronary artery disease over time. A licensed clinician can evaluate whether it may apply to you.
Is familial hypercholesterolemia genetic?
Yes, it is passed down in families through changes in certain genes. Relatives of someone with the condition may be at risk of having it too. Cascade testing is often discussed when a disease-causing variant is found.
Can genetic heart testing diagnose familial hypercholesterolemia?
Genetic heart testing can show whether you carry a variant linked with the condition, but it does not diagnose heart disease on its own. Results are interpreted alongside your history, exam, bloodwork and sometimes imaging. A negative result does not rule out risk, and a variant of uncertain significance is not a diagnosis.
What kind of doctor should I see for familial hypercholesterolemia?
A cardiologist, especially one with experience in lipid genetics, may be a good starting point. A genetic counselor can also help explain testing options and results. Your primary care clinician can help with referrals.
Should my family members be tested?
If a disease-causing variant is found in you, clinicians often discuss cascade testing, which offers testing to biological relatives. Whether it makes sense for each person is a decision to make with a licensed provider or genetic counselor.
Will genetic testing affect my insurance?
GINA protects against genetic discrimination in US health insurance and employment, but it does not cover life, disability or long-term-care insurance. Ask about those policies before testing. Also confirm testing coverage with your insurer and provider, since it varies.
Educational resource. CardioGenes shares general information and connects people with independent cardiologists. It is not medical advice, diagnosis or treatment. Talk with a licensed professional about your health.