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
Mika Hori
Mika Hori
Suita, JP 

Mika Hori practices in Suita, Japan. Hori and 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
Dr. Macrae F. Linton
Cardiology | Endocrinology
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 and 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
Borge G. Nordestgaard
Borge G. Nordestgaard
Copenhagen, DK 

Borge Nordestgaard practices in Copenhagen, Denmark. Nordestgaard and is rated as an Elite expert by MediFind in the treatment of Familial Hypercholesterolemia. Their 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?
Evaluation of the Effect of Lomitapide Treatment on Major Adverse Cardiovascular Events (MACE) in Patients with Homozygous Familial Hypercholesterolemia: a Multicenter, Retrospective and Prospective Observational Study
Evaluation of the Effect of Lomitapide Treatment on Major Adverse Cardiovascular Events (MACE) in Patients with Homozygous Familial Hypercholesterolemia: a Multicenter, Retrospective and Prospective Observational Study
Enrollment Status: Recruiting
Publish Date: February 18, 2025

Summary: This observational, multicenter, retrospective and prospective study aims to evaluate the effect of lomitapide treatment on Major Adverse Cardiovascular Events (MACE) in patients with Homozygous Familial Hypercholesterolemia (HoFH). HoFH is a rare genetic disorder characterized by extremely high levels of LDL cholesterol (LDL-C), leading to an increased risk of early cardiovascular diseases. Lomit...

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A Randomized Trial of Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis
A Randomized Trial of Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis
Enrollment Status: Recruiting
Publish Date: February 17, 2025
Intervention Type: Genetic
Study Phase: Not Applicable

Summary: This pilot study investigates integrating whole genome sequencing and digital twin technology for managing hypercholesterolemia in Abu Dhabi clinics. It aims to establish protocols for larger future studies and incorporate genomic insights into routine medical care.

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