Familial Hypercholesterolemia: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Familial Hypercholesterolemia?
A cardiologist, a heart doctor, often treats FH, short for familial hypercholesterolemia. A medical geneticist, a doctor for inherited conditions, can help with gene testing. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is familial hypercholesterolemia?
FH is an inherited condition that causes high blood levels of LDL cholesterol. LDL is sometimes called bad cholesterol. The condition begins at birth and can cause heart attacks at an early age. It affects about 1 in 311 people.
People with FH are more likely to have coronary artery disease or a heart attack. In this disease, extra cholesterol builds up in the arteries that bring blood to the heart.
Symptoms
In the early years there may be no symptoms. Later, signs and symptoms can include:
- Fatty skin deposits called xanthomas on parts of the hands, elbows, knees, and ankles.
- Growths on the Achilles tendon, the tendon at the back of the lower leg, which may be swollen or painful.
- Yellow cholesterol patches on the eyelids.
- A gray ring at the edge of the cornea, the clear front of the eye.
- Chest pain, called angina, or other signs of coronary artery disease at a young age.
- Cramping of one or both calves when walking.
- Sores on the toes that do not heal.
- Sudden stroke-like symptoms, such as trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance.
Complications can include an early heart attack, heart disease, and stroke.
Causes and who gets it
FH is mainly caused by inherited gene changes. They affect how the body removes cholesterol from the blood. Changes in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause it. LDLR changes are the most common cause. About 60-80% of people with FH have a specific genetic change.
FH is usually passed down in an autosomal dominant pattern, which means one altered copy of the gene is enough to cause it. Rarely, a child gets an altered gene from both parents. Then the cholesterol level is much more severe, and heart attacks and heart disease can happen even in childhood. Diet, exercise, and smoking also strongly affect cholesterol and heart disease risk.
How doctors diagnose it
One of the main signs of FH is an LDL cholesterol level over 190 mg/dL in adults, or over 160 mg/dL in children. Most people with FH also have family members with early heart disease or heart attacks. Blood tests may show high total cholesterol and high LDL, with normal triglyceride levels. A physical exam may show xanthomas and cholesterol deposits in the eye.
A doctor may refer you for genetic counseling and testing. Genetic testing can confirm the diagnosis. If it finds a change, family members can be tested for the same change.
Treatment
Healthy habits and exercise matter. But they often are not enough to bring cholesterol to a healthy level. You will need cholesterol-lowering medicine, and often more than one type. Statins are the most commonly prescribed medicines. Other medicines include ezetimibe, fibrates, and nicotinic acid. PCSK9 inhibitors and bile acid-sequestering resins are two more. Finding and treating FH early can reduce the risk of coronary artery disease by about 80%.
People with a severe form may need apheresis. Blood or plasma is removed from the body. Special filters take out extra LDL cholesterol. Then the plasma is returned.
When to see a doctor
Contact a doctor if you have a personal or family history of high cholesterol. If you worry about FH or heart disease in your family, write down your family health history and talk to your doctor. Call 911 or go to the emergency room if you have chest pain or discomfort lasting two minutes or more. Also call 911 or go to the emergency room for trouble breathing, fainting, sudden weakness, sudden trouble speaking, or a sudden change in vision.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can order cholesterol tests, review family history, and manage long-term care.
Common questions
Does familial hypercholesterolemia cause symptoms?
Not always, since in the early years there may be no symptoms. Over time, some people get xanthomas, eye changes, or signs of heart disease.
Is familial hypercholesterolemia passed down in families?
Yes, it is an inherited condition. It is usually passed down in an autosomal dominant pattern, so one altered copy of the gene is enough to cause it.
Can diet and exercise alone control familial hypercholesterolemia?
Often they cannot. Healthy habits matter, but they are often not enough to lower cholesterol to a healthy level. Most people will need cholesterol-lowering medicine, and statins are the most commonly prescribed.
Do children with familial hypercholesterolemia need treatment?
Sometimes they do, because a child who is diagnosed with FH may need statin therapy in childhood. Treatment often starts by age 8 to 10.
Sources
- Centers for Disease Control and Prevention - About Familial Hypercholesterolemia
- MedlinePlus - Familial hypercholesterolemia
- MedlinePlus Genetics - Familial hypercholesterolemia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
