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
Offers Telehealth

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, Familial Hypercholesterolemia, Atherosclerosis, Homozygous Familial Hypercholesterolemia (HoFH), and Nephrectomy. Dr. Linton is currently accepting new patients.

 
 
 
 
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Borge G. Nordestgaard
Elite in Familial Hypercholesterolemia
Borge G. Nordestgaard
Elite in Familial Hypercholesterolemia
Borge G. Nordestgaard
Herlev, DK 

Borge Nordestgaard practices in Herlev, Denmark. Mr. Nordestgaard is rated as an Elite expert by MediFind in the treatment of Familial Hypercholesterolemia. His top areas of expertise are Gallstones, Atherosclerosis, Familial Hypercholesterolemia, Gallbladder Disease, and Liver Transplant.

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What are the latest Familial Hypercholesterolemia Clinical Trials?
Phase 3 Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)
Phase 3 Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)
Enrollment Status: Recruiting
Publish Date: October 10, 2025
Intervention Type: Drug
Study Phase: Phase 3

Summary: This multicenter, randomized, placebo-controlled study will evaluate the efficacy and safety of zodasiran subcutaneous (SC) injection in subjects 12 years of age and older with genetically or clinically diagnosed Homozygous familial hypercholesterolemia (HoFH). After completion of the double blind (DB) treatment period subjects will be eligible to continue in the optional open-label extension (OLE...

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Study of the Determinants of Coronary Atherosclerosis in Familial Hypercholesterolemia
Study of the Determinants of Coronary Atherosclerosis in Familial Hypercholesterolemia
Enrollment Status: Recruiting
Publish Date: October 03, 2025
Intervention Type: Other
Study Phase: Not Applicable

Summary: The goal of this study (interventional clinical research not involving a health product) is to assess the prevalence of subclinical coronary atherosclerosis diagnosed by coronary CT angiography in heart failure patients in primary prevention, across different levels of cardiovascular risk defined by coronary artery calcium (CAC) score percentiles (based on data from the MESA study): low risk (≤25t...

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