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?
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.

Macrae F. Linton
Elite in Familial Hypercholesterolemia
Dr. Macrae F. Linton
Cardiology | Endocrinology
Elite in Familial Hypercholesterolemia
Dr. Macrae F. Linton
Cardiology | Endocrinology

Vanderbilt University Medical Center

719 Thompson Ln, 
Nashville, TN 
615-322-3000
Languages Spoken:
English
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Accepting New Patients
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Macrae Linton is a Cardiologist and an Endocrinologist in Nashville, Tennessee. Dr. Linton is rated as an Elite provider by MediFind in the treatment of Familial Hypercholesterolemia. His top areas of expertise are High Cholesterol, Atherosclerosis, Familial Hypercholesterolemia, Familial Hypertriglyceridemia, and Nephrectomy. Dr. Linton is currently accepting new patients.

 
 
 
 
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Elite in Familial Hypercholesterolemia
Hayato Tada
Elite in Familial Hypercholesterolemia
Hayato Tada
Kanazawa, JP 

Hayato Tada practices in Kanazawa, Japan. Mr. Tada is rated as an Elite expert by MediFind in the treatment of Familial Hypercholesterolemia. His top areas of expertise are Familial Hypercholesterolemia, High Cholesterol, Sitosterolemia, Cardiac Ablation, and Percutaneous Coronary Intervention (PCI).

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What are the latest Familial Hypercholesterolemia Clinical Trials?
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: December 17, 2025
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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Two Part (Double-blind Inclisiran Versus Placebo [Year 1] Followed by Open-label Inclisiran [Year 2]) Randomized Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Inclisiran in Children (2 to Less Than 12 Years) With Homozygous Familial Hypercholesterolemia and Elevated LDL-cholesterol
Two Part (Double-blind Inclisiran Versus Placebo [Year 1] Followed by Open-label Inclisiran [Year 2]) Randomized Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Inclisiran in Children (2 to Less Than 12 Years) With Homozygous Familial Hypercholesterolemia and Elevated LDL-cholesterol
Enrollment Status: Recruiting
Publish Date: December 12, 2025
Intervention Type: Drug
Study Phase: Phase 3

Summary: This is a pivotal phase III study designed to evaluate safety, tolerability, and efficacy of inclisiran in children (aged 2 to \<12 years) with homozygous familial hypercholesterolemia (HoFH) and elevated low density lipoprotein cholesterol (LDLC).

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