What it is
Familial hypercholesterolemia is a genetic condition that affects how the body clears LDL ("bad") cholesterol from the blood. Changes in certain genes, often called an FH gene mutation or variant, can make this clearing process less efficient, so LDL cholesterol may stay high for many years, even in people who eat well and stay active.
Because FH is passed down in families, it often shows up across generations. A person may have a parent, sibling or child with very high cholesterol or with heart problems at a younger age. Many people with FH have no obvious symptoms, which is why it is sometimes found only through bloodwork or family history. Some people may notice physical signs such as fatty deposits on tendons or around the eyes, but not everyone does.
Not all very high LDL cholesterol is caused by FH. Diet, other health conditions, medications and other genetic factors can also play a role in very high LDL cholesterol causes. Genetic heart testing can show whether a known FH-related variant is present, but it shows risk or carrier status and does not diagnose heart disease on its own.
How it’s traditionally been approached
FH has traditionally been recognized through a combination of cholesterol blood tests, personal history, family history and a physical exam. Clinicians may look at how high LDL levels are, how early they appeared, and whether relatives have had early heart disease.
Genetic testing has been added in many settings to help confirm whether an inherited variant is involved. Results are interpreted alongside history, exam, imaging and bloodwork by a qualified cardiologist, electrophysiologist or genetic counselor. A negative result does not rule out risk, and a variant of uncertain significance is not a diagnosis.
Care for FH has traditionally centered on lifestyle support and on medical approaches chosen by a licensed clinician after an evaluation. Because FH runs in families, cascade testing, which means offering testing to biological relatives once a disease-causing variant is found, has also been a common part of the conversation.
How the right cardiologist may help
The right cardiologist may help you make sense of cholesterol results, family history and any genetic testing in one place. A first visit generally includes reviewing your personal and family health story, a physical exam, and possibly bloodwork or imaging. Your clinician may also discuss whether genetic heart testing makes sense for you.
A cardiologist may also coordinate with a genetic counselor before and after testing. Genetic counseling can help you understand what a result may and may not mean, and how it could affect relatives. Genetic counselor licensing varies by state, so it is fair to ask about credentials.
Questions you might bring: Could my cholesterol be related to FH? Is genetic testing appropriate for me? What would a negative or uncertain result mean? Which relatives might consider cascade testing? How does coverage work? Coverage for genetic testing and cardiac care varies by insurer, state and diagnosis, so confirm with your insurer and provider. Also ask about GINA, which protects against genetic discrimination in US health insurance and employment but does not cover life, disability or long-term-care insurance, ideally before testing.
The whole-person view
Body, mind and stress affect each other. Learning that high cholesterol runs in your family can bring up worry, guilt or concern for children and relatives, and ongoing stress can affect sleep, habits and how safe your body feels. Looking at the whole person means caring for the heart and also the emotions around the diagnosis.
Some people find body-based support helpful, such as the approaches listed through Somatic Experiences. Others value talk therapy with a licensed professional through Therapists.plus. These are complementary options that sit alongside, not in place of, the care your cardiologist provides, and no approach is better for everyone.
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.
- Genetic tests show risk or carrier status and do not diagnose heart disease alone; no test or treatment can promise to prevent a heart attack or sudden cardiac death.
- Medications and other treatments are decided only by a licensed clinician after an evaluation, so ask your provider about the regulatory status of anything you are considering.
- For emergencies such as chest pain, fainting or trouble breathing, call 911; in an emotional crisis, call or text the 988 Lifeline.
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Frequently asked questions
What is familial hypercholesterolemia?
Familial hypercholesterolemia is an inherited condition in which the body has trouble clearing LDL cholesterol, which can lead to very high levels from an early age. It is caused by changes in certain genes and runs in families. A qualified clinician can help determine whether it applies to you.
What are the symptoms of familial hypercholesterolemia?
Many people with familial hypercholesterolemia have no noticeable symptoms, and it is often found through cholesterol bloodwork or family history. Some people develop physical signs such as fatty deposits on tendons or around the eyes. A cardiologist can evaluate whether any signs or results point toward FH.
What causes very high LDL cholesterol?
Very high LDL cholesterol can be caused by inherited gene variants such as those seen in FH, as well as by diet, other medical conditions and certain medications. Often more than one factor is involved. A clinician can help sort out the likely causes through history, exam and bloodwork.
Is familial hypercholesterolemia genetic testing worth considering?
Familial hypercholesterolemia genetic testing may help identify an FH gene mutation, which can add information to your cholesterol results and family history. It does not diagnose on its own, and a negative result does not rule out risk. A genetic counselor or cardiologist can help you decide whether it fits your situation.
What is cascade testing for high cholesterol?
Cascade testing is the process of offering testing to biological relatives after a disease-causing variant is found in one family member. It can help relatives learn whether they carry the same variant. A genetic counselor can help guide who to approach and how.
Does GINA protect me if I have genetic testing?
GINA protects against genetic discrimination in US health insurance and employment, but it does not cover life, disability or long-term-care insurance. It is wise to ask about those types of coverage before testing. A genetic counselor can walk you through these considerations.
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.