Familial Hypercholesterolemia: The Inherited Cholesterol Condition Most People Never Know They Have
Updated: 6 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 2026
Source currency note: This guide reflects medical information reviewed in June 2026. Always confirm current guidance with your healthcare professional.
Quick Answer
Familial hypercholesterolemia is an inherited condition present from birth that prevents the body from clearing LDL cholesterol, raising the risk of early heart disease and heart attack. Most people need more than one cholesterol-lowering medicine plus a heart-healthy lifestyle. When one person is diagnosed, first-degree relatives are usually tested so treatment can begin early. [3] [4]
What the research says
Testing relatives finds about one new case per person diagnosed. A systematic review of 24 studies found the median number of new relatives with FH per known index case was approximately 1, and a combination approach, where the index person chooses how relatives are contacted, gave the highest share of contacted relatives who were tested (40%, 95% CI 37%–42%), although the authors noted the evidence is limited (Leonardi-Bee et al., Atherosclerosis, 2021 [1]).
FH is often undertreated, and the heart risk is high when it is. In a UK primary-care dataset analysed in a national health technology assessment, 70% of people with coded FH did not reach target treatment levels, and cardiovascular risk among these individuals was higher than in controls (hazard ratio 9.14, 95% CI 8.55–9.76) (Qureshi et al., Health Technology Assessment, 2023 [2]).
What is familial hypercholesterolemia?
Familial hypercholesterolemia is an inherited condition that affects the way the body processes cholesterol. As a result, people with the condition have a higher risk of heart disease and a greater risk of early heart attack [3].
The genetic changes that cause it are present from birth, but symptoms may not appear until adulthood [3].
There are two types:
Type | Inheritance | How common | Severity |
Heterozygous (HeFH) | Inherited from one parent | The more common type | Serious, treatable |
Homozygous (HoFH) | Inherited from both parents | The rare type | More serious; symptoms often begin in childhood |
People who inherit the condition from both parents usually develop symptoms in childhood. If this rare and more serious form is not treated, death often occurs before age 20. Treatments for both types include a variety of medicines and healthy-lifestyle behaviors [3].
Why the cholesterol stays high
Adults and children with familial hypercholesterolemia have very high levels of low-density lipoprotein (LDL) cholesterol in their blood. LDL is known as “bad” cholesterol because it can build up in the walls of the arteries, making them hard and narrow [3].
A key point that separates FH from ordinary high cholesterol: it cannot be explained away by diet alone. The condition is caused by a gene alteration that prevents the body from ridding itself of the type of cholesterol that builds up in the arteries and causes heart disease. Someone can eat well and exercise, and still have dangerously high LDL, because their body was born unable to clear it. [3].
Symptoms: what to look for
Because FH is silent on its own, the condition is often noticed through its visible side effects: deposits of the excess cholesterol in certain portions of the skin and some tendons, called xanthomas. These can also cause a white, gray, or blue circle around the iris of the eye, called corneal arcus (or arcus senilis) [3].
Location | What it looks like |
Skin: hands | The most common spot for cholesterol deposits; also elbows and knees |
Skin: eyes | Deposits can occur in the skin around the eyes |
Tendons: Achilles | Cholesterol deposits may thicken the Achilles tendon |
Tendons: hands | Some tendons in the hands may also thicken |
Eyes: iris | A white or gray ring around the iris (corneal arcus); most common in older people, but it can appear in younger people with FH |
Corneal arcus in an older person is often harmless on its own. When it shows up in a younger person, however, it can be a clue pointing toward familial hypercholesterolemia.
What causes familial hypercholesterolemia?
A gene alteration that is passed down from one or both parents causes familial hypercholesterolemia. People who have this condition are born with it. The gene alteration prevents the body from ridding itself of the cholesterol type that builds up in the arteries and causes heart disease [3].
Risk factors and who is more likely to have it
The risk is higher if one or both parents have the gene alteration that causes FH. Most people with the condition receive one affected gene; in rare cases, a child can get the affected gene from both parents, causing the more serious form. FH can happen in any race or ethnic group, but it may be more common in certain populations [3].
Population | Note |
Ashkenazi Jews | FH may be more common in this group |
Some Lebanese groups | FH may be more common in certain groups |
French Canadians | FH may be more common in this group |
The inheritance math
FH follows an autosomal dominant pattern: if one parent has familial hypercholesterolemia, each child has a 50% chance of inheriting it. Inheriting the altered gene from both parents results in the rare and more serious form of the disease [4].
Why it is dangerous if missed
People with FH have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and before age 60 in women. The rare and more serious form, if not diagnosed or treated, can cause death before age 20 [3].
How FH is diagnosed
Family history is the starting point
A detailed family history is an important key to diagnosing FH. Healthcare professionals will want to know if your siblings, parents, aunts, uncles, or grandparents ever had high cholesterol levels or heart disease, especially during childhood [4].
The physical exam
During the exam, your healthcare team will check for cholesterol deposits that may occur in the skin around the hands, knees, elbows, and eyes. Tendons in the heel and hand may be thickened, and a gray or white ring may develop around the iris of the eye [4].
Cholesterol tests
Blood tests check your cholesterol levels. Here are the key thresholds [4].
Measure | Threshold | Meaning |
First screening (recommended) | Ages 9–11, then every five years | Recommended starting point for the general population |
Adult LDL in FH | Over 190 mg/dL (4.9 mmol/L) | Or levels that stay high even on cholesterol-lowering treatment |
Child LDL in FH | Often over 160 mg/dL (4.1 mmol/L) | Children with the condition |
Severe cases | Over 500 mg/dL (13 mmol/L) | The more serious form of the condition |
In the United States, cholesterol is measured in milligrams per deciliter (mg/dL); in Canada and many European countries, in millimoles per liter (mmol/L). Earlier or more frequent screenings may be suggested for families with a history of childhood heart disease [4].
Genetic testing
A genetic test can confirm familial hypercholesterolemia, but it is not always necessary. However, a genetic test can help determine whether other family members may also be at risk [4].
Cascade screening matters: if you are diagnosed with FH, healthcare professionals usually recommend that your first-degree relatives (siblings, parents, and children) be checked for the condition. This allows treatment to begin early, if needed. [4].
Treatment: what actually works
FH treatment focuses on reducing the extremely high LDL cholesterol levels, which lowers the risk of heart attack and death. Most people with familial hypercholesterolemia need more than one medicine to control their LDL levels [4].
Medications
Medicine | How it works | Notes |
Statins | Block a substance the liver needs to make cholesterol | Examples: atorvastatin, fluvastatin, lovastatin, pitavastatin, pravastatin, rosuvastatin, simvastatin |
Ezetimibe | Limits absorption of cholesterol from food | Often added when statins do not reduce cholesterol enough |
PCSK9 inhibitors | Help the liver absorb more LDL, lowering circulating cholesterol | Includes alirocumab, evolocumab, and inclisiran; injected under the skin every few weeks or months; very expensive |
Bempedoic acid | Reduces LDL production by the liver | Newer oral medicine; fixed daily dose; well tolerated |
Other treatments
People with more serious familial hypercholesterolemia may also need a periodic procedure that filters the excess cholesterol from their blood. Some may need liver transplants [4].
Self-care: lifestyle habits that help
Healthy-lifestyle habits can help reduce the risk of heart disease, and some may lower your cholesterol [4].
Habit | Recommendation |
Lose extra pounds | Losing weight can help lower cholesterol |
Eat a heart-healthy diet | Focus on plant-based foods, including fruits, vegetables, and whole grains; limit saturated fats and trans fats |
Exercise regularly | At least 30 minutes of moderate-intensity exercise five times a week |
Don't smoke | Smoking does not affect blood cholesterol, but it significantly increases the risk of heart attacks and strokes in people with FH |
Note the important nuance about smoking: it does not change your cholesterol numbers, but it significantly raises the danger that FH already creates.
Telling your family: coping and support
Finding out you have FH can feel overwhelming, especially when thinking about how it may affect your family. Having a plan for sharing the information helps, and support and resources are available. Here are practical tips for sharing a new FH diagnosis [4].
Step | Why it helps |
Choose your communication style | Call, meet in person, or send a message; pick what works best for you |
Identify your family's “news sharer” | The relative who usually spreads important news can help tell others about FH |
Share educational resources | Brochures and materials help relatives understand FH and decide about genetic testing |
Remember children can be affected | Kids as young as 8 to 10 may need testing or treatment |
Respect their choice | Some relatives may want testing; some may not. By sharing what you know, you have done your part |
It is also important to tell your primary healthcare professional about your FH diagnosis, whether you had genetic testing, your family health history, and the medicines you take. FH is a lifelong condition, and your primary care team can monitor your cholesterol and help you find ways to lower your risk of heart disease [4].
Preparing for your appointment
You might start by talking to your family healthcare professional, who may refer you to a specialist in heart disease called a cardiologist [4].
What you can do
Write a list that includes your symptoms, other medical conditions, all the medicines, vitamins, and supplements you take (with doses), your family's medical history (including whether siblings, parents, aunts, uncles, or grandparents ever had high cholesterol or heart disease, especially during childhood), and the questions you want to ask [4].
What to expect
Your healthcare professional is likely to ask whether close relatives ever had high cholesterol or heart disease; when your last cholesterol test was and what the results were; what your diet looks like; how much exercise you get; how much alcohol you drink; and whether you smoke or spend time around other smokers [4].
Conclusion: a condition you can outsmart with early action
Familial hypercholesterolemia is present from birth, but it is also treatable, especially when it is found early. The genetic changes are there from birth, but the outcomes are not sealed: with a combination of medications, a heart-healthy lifestyle, and family screening, the risk of early heart attack can be lowered.
If your LDL stays stubbornly high despite good habits, or if high cholesterol and early heart disease run through your family, it is worth asking about FH specifically. And if you are diagnosed, the single most important next step is not a prescription. It is telling your family, so that siblings, parents, and children can get tested and treated while there is still time to act.
Want more practical, evidence-based guides like this one? Explore our collection of heart health explainers, and tell us what to cover next in the comments.
Learn more from trusted organizations
Centers for Disease Control and Prevention: About Familial Hypercholesterolemia
American Heart Association: What is Familial Hypercholesterolemia?
National Heart, Lung, and Blood Institute: Blood Cholesterol
Frequently Asked Questions
What is familial hypercholesterolemia?
Familial hypercholesterolemia is an inherited condition present from birth that affects how the body processes cholesterol. People with FH have very high LDL (“bad”) cholesterol, a higher risk of heart disease, and a greater risk of early heart attack.
Is familial hypercholesterolemia genetic?
Yes. It is caused by a gene alteration passed down from one or both parents. The condition is present from birth, though symptoms may not appear until adulthood.
What is the difference between the two types?
The heterozygous form (HeFH) is inherited from one parent and is the more common type. The homozygous form (HoFH) is inherited from both parents, is rare, and is more serious. Symptoms usually begin in childhood, and without treatment, death often occurs before age 20.
What are the visible signs of FH?
Excess cholesterol can form deposits called xanthomas on the hands, elbows, knees, and skin around the eyes, and can thicken the Achilles tendon and tendons in the hands. A white, gray, or blue ring around the iris (corneal arcus) is another possible sign, especially in younger people.
What LDL levels suggest FH?
Adults with FH usually have LDL cholesterol over 190 mg/dL (4.9 mmol/L), or levels that stay high despite treatment. Children often have LDL over 160 mg/dL (4.1 mmol/L). In more serious cases, LDL can exceed 500 mg/dL (13 mmol/L).
If I have FH, what are the odds my child gets it?
If one parent has FH, each child has a 50% chance of inheriting it. First-degree relatives (siblings, parents, and children) are usually recommended for screening when one family member is diagnosed.
Can diet and exercise cure familial hypercholesterolemia?
No. The condition is genetic, so lifestyle alone cannot clear the excess cholesterol. But a heart-healthy diet, regular exercise, weight loss, and avoiding smoking all reduce heart disease risk, and these habits work alongside the medications most people need.
What medicines treat FH?
Most people need more than one medicine: statins, ezetimibe, PCSK9 inhibitors (injected every few weeks or months), and newer oral options such as bempedoic acid. More serious cases may require a procedure that filters cholesterol from the blood, and some people may need a liver transplant.
When should children be screened for cholesterol?
The first screening is recommended between ages 9 and 11, repeated every five years, with earlier or more frequent testing for families with a history of childhood heart disease.
Why is quitting smoking important with FH?
Smoking does not affect blood cholesterol levels, but it significantly increases the risk of heart attacks and strokes for people with FH, adding to an already elevated risk.
References
Leonardi-Bee J, Boateng C, Faria R, et al. Effectiveness of cascade testing strategies in relatives for familial hypercholesterolemia: a systematic review and meta-analysis. Atherosclerosis. 2021;338:7-14. PMID 34753031. https://doi.org/10.1016/j.atherosclerosis.2021.09.014
Qureshi N, Woods B, Neves de Faria R, et al. Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis. Health Technology Assessment. 2023;27(16):1-140. PMID 37924278. https://doi.org/10.3310/CTMD0148
Mayo Clinic Staff. Familial hypercholesterolemia: symptoms and causes. Mayo Clinic. June 12, 2026. https://www.mayoclinic.org/diseases-conditions/familial-hypercholesterolemia/symptoms-causes/syc-20353755
Mayo Clinic Staff. Familial hypercholesterolemia: diagnosis and treatment. Mayo Clinic. June 12, 2026. https://www.mayoclinic.org/diseases-conditions/familial-hypercholesterolemia/diagnosis-treatment/drc-20353757
Medical disclaimer
This article was prepared for general information only and is not a substitute for professional medical advice.
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