Familial Hypercholesterolemia
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Familial Hypercholesterolemia Overview

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Learn About Familial Hypercholesterolemia

View Main Condition: High Cholesterol

What is the definition of Familial Hypercholesterolemia?
Familial hypercholesterolemia is a common genetic condition that causes high blood levels of low-density lipoprotein (LDL), or bad, cholesterol. This bad cholesterol builds up in the arteries, causing them to harden and narrow. Familial hypercholesterolemia increases the risks of cardiovascular disease and heart attack.
What are the symptoms of Familial Hypercholesterolemia?
Symptoms of familial hypercholesterolemia may not occur until an adult. If an individual inherits familial hypercholesterolemia from both parents, symptoms usually appear in childhood. Symptoms of familial hypercholesterolemia may include xanthelasmas (cholesterol lesions in the eyelids); a white or gray ring around the iris of the eye; xanthomas (fatty skin lesions) around the cornea and on the hands, elbows, buttocks, knees, and ankles; chest pain; stroke-like symptoms, such as speech difficulties, facial paralysis, arm or leg weakness, and loss of balance; calve cramping upon walking; cholesterol deposits in tendons; sores on toes; cerebrovascular disease; peripheral artery disease; transient ischemic attack; and stroke.
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What are the current treatments for Familial Hypercholesterolemia?
Familial hypercholesterolemia in childhood that is left untreated can lead to death by age 20. However, the cardiovascular symptoms associated with familial hypercholesterolemia can be prevented with early treatment. Treatments for familial hypercholesterolemia include lifestyle modifications, such as a low-saturated fat diet, weight loss, and regular exercise; quitting smoking; medications, such as atorvastatin, Fluvastatin, lovastatin, pravastatin, pitivastatin, rosuvastatin, simvastatin, colesevalam, Welcol, bempedoic acid, icosapent ethyl, ezetimibe, fibrates, nicotinic acid, alirocumab, evinacumab-dgnb, evolocumab, lomitapide, and mipomersen; blood plasma-filtering (apharesis); and liver transplantation.
Who are the top Familial Hypercholesterolemia Local Doctors?
Elite in Familial Hypercholesterolemia
Dr. Zahid Ahmad
Endocrinology
Elite in Familial Hypercholesterolemia
Dr. Zahid Ahmad
Endocrinology

University Of Texas Southwestern Medical Center

5323 Harry Hines Blvd, 
Dallas, TX 
214-590-8058
Languages Spoken:
English
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Offers Telehealth

Zahid Ahmad is an Endocrinologist in Dallas, Texas. Dr. Ahmad is rated as an Elite provider by MediFind in the treatment of Familial Hypercholesterolemia. His top areas of expertise are Familial Hypercholesterolemia, Familial Hypertriglyceridemia, Defective Apolipoprotein B-100, and Heterozygous Familial Hypercholesterolemia (HeFH).

Elite in Familial Hypercholesterolemia
Dr. Paul Duell
Endocrinology
Elite in Familial Hypercholesterolemia
Dr. Paul Duell
Endocrinology

OHSU Hospital

3181 SW Sam Jackson Park Rd, 
Portland, OR 
503-494-3273
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Paul Duell is an Endocrinologist in Portland, Oregon. Dr. Duell is rated as an Elite provider by MediFind in the treatment of Familial Hypercholesterolemia. His top areas of expertise are Familial Hypercholesterolemia, Defective Apolipoprotein B-100, Homozygous Familial Hypercholesterolemia (HoFH), and Heterozygous Familial Hypercholesterolemia (HeFH).

 
 
 
 
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Mika Hori
Elite in Familial Hypercholesterolemia
Mika Hori
Elite in Familial Hypercholesterolemia
Mika Hori
Nagoya, JP 

Mika Hori practices in Nagoya, Japan. Hori is rated as an Elite expert by MediFind in the treatment of Familial Hypercholesterolemia. Their top areas of expertise are Heterozygous Familial Hypercholesterolemia (HeFH), Familial Hypercholesterolemia, High Cholesterol, Defective Apolipoprotein B-100, and Pancreaticoduodenectomy.

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What are the latest Familial Hypercholesterolemia Clinical Trials?
Screening for Familial Hypercholesterolemia in Children
Screening for Familial Hypercholesterolemia in Children
Enrollment Status: Recruiting
Publish Date: February 12, 2026
Intervention Type: Biological
Study Phase: Not Applicable

Summary: Familial hypercholesterolemia is the most common treatable genetic disorder for which a simple, effective treatment is available, with few side effects. It leads to a significant increase in LDL levels, generally in excess of 1.9g/l, including in children. It is much higher than the values usually found in secondary or polygenic hypercholesterolemia. This condition multiplies the cardiovascular ri...

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Open-label, Phase 1b, Single Ascending Dose Study to Evaluate the Safety of VERVE-102 Administered to Patients With Heterozygous Familial Hypercholesterolemia or Premature Coronary Artery Disease Who Require Additional Lowering of Low-density Lipoprotein Cholesterol
Open-label, Phase 1b, Single Ascending Dose Study to Evaluate the Safety of VERVE-102 Administered to Patients With Heterozygous Familial Hypercholesterolemia or Premature Coronary Artery Disease Who Require Additional Lowering of Low-density Lipoprotein Cholesterol
Enrollment Status: Recruiting
Publish Date: February 10, 2026
Intervention Type: Drug
Study Phase: Phase 1

Summary: VT-10201 is an Open-label, Phase 1b, Single-ascending Dose Study That Will Evaluate the Safety of VERVE-102 Administered to Patients With Heterozygous Familial Hypercholesterolemia (HeFH) or Premature Coronary Artery Disease (CAD) Who Require Additional Lowering of LDL-C. VERVE-102 Uses Base-editing Technology Designed to Disrupt the Expression of the PCSK9 Gene in the Liver and Lower Circulating ...

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