What it is
Familial hypercholesterolemia (often shortened to FH) is an inherited condition that can cause LDL cholesterol, sometimes called "bad" cholesterol, to be high from a young age. It is usually caused by a change, or variant, in a gene involved in how the body clears cholesterol from the blood.
Because it is inherited, FH can appear in several members of the same family. Some people learn they have it only after a relative has a heart event at a young age, or after a routine blood test shows unusually high cholesterol.
Genetic heart testing can sometimes identify a variant linked to FH, but it does not diagnose heart disease on its own. Results must be interpreted alongside personal and family history, physical exam, bloodwork and imaging by a qualified cardiologist, lipid specialist or genetic counselor. A negative result does not rule out risk, and a variant of uncertain significance is not a diagnosis.
How it’s traditionally been approached
Traditionally, FH has been approached by confirming the pattern of cholesterol levels over time, reviewing family history, and looking for physical signs a clinician may check during an exam. Genetic testing is sometimes added to help clarify the picture.
Care has commonly involved a combination of eating and lifestyle habits and, when a licensed clinician decides it is appropriate, prescription medicines. Some people are also referred to specialized lipid clinics. Which approaches fit a given person is decided only by a licensed clinician after an evaluation.
Regulatory status matters here: prescription cholesterol medicines and other therapies are regulated by the FDA, and each has its own approved uses. It is reasonable to ask a provider how any suggested option is approved and why it may or may not suit you. Coverage varies by insurer, state and diagnosis, so confirm details with your insurer and provider.
How the right cardiologist may help
The right cardiologist, especially one with experience in lipid disorders and inherited heart conditions, may help you make sense of your numbers, your family history and any genetic results. A first visit generally involves reviewing your history, a physical exam, and possibly bloodwork or imaging. It is a conversation, not a commitment to any particular path.
Helpful questions to bring include: What do my cholesterol results suggest in the context of my family history? Would genetic heart testing be useful for me, and what could the results not tell us? Should I meet with a genetic counselor before and after testing? How might this affect my relatives?
If a disease-causing variant is found, cascade (family) testing of relatives is often discussed. Before testing, ask about GINA, the Genetic Information Nondiscrimination Act. It 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 first. Genetic counselor licensing varies by state.
The whole-person view
Body, mind and stress affect each other. Learning that a condition runs in your family can bring worry, guilt or concern for children and relatives, and ongoing stress can in turn affect sleep, eating habits and how people feel day to day. Looking at the whole person can be a helpful complement to medical care, not a replacement for it.
Some people find body-based support, such as the approaches offered through Somatic Experiences, helpful for working with stress held in the body. Others prefer talk therapy, which can be found through Therapists.plus. Every approach has its place, and what suits you is personal.
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; licensed professionals should guide all decisions about testing and care.
- No test or treatment can promise to prevent a heart attack or sudden cardiac death, and outcomes differ from person to person.
- Ask your insurer and provider about coverage, and ask about life, disability and long-term-care insurance before genetic testing.
- For emergencies such as chest pain, fainting or trouble breathing, call 911; in a crisis or if you feel overwhelmed, call or text 988.
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Frequently asked questions
What is familial hypercholesterolemia treatment?
Familial hypercholesterolemia treatment refers to the care a licensed clinician may recommend for people with this inherited cholesterol condition. It has traditionally involved lifestyle habits and, when appropriate, prescription medicines, guided by an evaluation. What fits you is decided only by your clinician.
Can genetic heart testing confirm familial hypercholesterolemia?
Genetic heart testing can sometimes find a variant linked to FH, but it does not diagnose the condition by itself. A cardiologist or genetic counselor interprets results alongside your history, exam and bloodwork. A negative result does not rule out risk.
Is familial hypercholesterolemia curable?
No treatment is promised to cure FH, because it is rooted in inherited genes. Care is generally about ongoing management guided by a licensed clinician. Ask your provider what to expect in your situation.
Who should I see for familial hypercholesterolemia?
A cardiologist, particularly one experienced in lipid disorders and inherited heart conditions, is a common starting point. Some people are also referred to a lipid clinic or a genetic counselor. Your primary care clinician can help with referrals.
Should my family members be tested for familial hypercholesterolemia?
If a disease-causing variant is found in one person, cascade (family) testing of relatives is often discussed. A genetic counselor can explain who may benefit and what results could mean. Relatives can also talk with their own clinicians about cholesterol screening.
Will insurance cover familial hypercholesterolemia treatment and genetic testing?
Coverage varies by insurer, state and diagnosis, so confirm with your insurer and provider. GINA protects against genetic discrimination in US health insurance and employment, but not life, disability or long-term-care insurance. Ask about those before testing.
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.