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 practicing medicine in Dallas, Texas. Dr. Ahmad is rated as an Elite provider by MediFind in the treatment of Familial Hypercholesterolemia. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses 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 practicing medicine in Portland, Oregon. Dr. Duell is rated as an Elite provider by MediFind in the treatment of Familial Hypercholesterolemia. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Familial Hypercholesterolemia, Defective Apolipoprotein B-100, Homozygous Familial Hypercholesterolemia (HoFH), and Heterozygous Familial Hypercholesterolemia (HeFH).

 
 
 
 
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Elite in Familial Hypercholesterolemia
Dr. Macrae Linton
Internal Medicine
Elite in Familial Hypercholesterolemia
Dr. Macrae Linton
Internal Medicine

Vanderbilt Heart One Hundred Oaks

719 Thompson Ln Ste 22100, 
Nashville, TN 
615-322-5000
Languages Spoken:
English
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Offers Telehealth

Macrae Linton is an Internal Medicine provider practicing medicine in Nashville, Tennessee. Dr. Linton is rated as an Elite provider by MediFind in the treatment of Familial Hypercholesterolemia. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Atherosclerosis, Familial Hypercholesterolemia, Familial Hypertriglyceridemia, and Nephrectomy.

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What are the latest Familial Hypercholesterolemia Clinical Trials?
An Observational Prospective Study to Assess the Effectiveness of Inclisiran(Leqvio®)in Patients With Atherosclerotic Vascular Disease and/or Heterozygous Familial Hypercholesterolemia Treated in Spanish Clinical Practice:the INSPIRE Study
An Observational Prospective Study to Assess the Effectiveness of Inclisiran(Leqvio®)in Patients With Atherosclerotic Vascular Disease and/or Heterozygous Familial Hypercholesterolemia Treated in Spanish Clinical Practice:the INSPIRE Study
Enrollment Status: Recruiting
Publish Date: April 16, 2026
Intervention Type: Other

Summary: This study aims to address several key questions regarding the use of inclisiran in real-world clinical practice in Spain.

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Comparing Direct and Indirect Methods for Cascade Screening in Familial Hypercholesterolemia (FH) and Long QT Syndrome (LQTS)
Comparing Direct and Indirect Methods for Cascade Screening in Familial Hypercholesterolemia (FH) and Long QT Syndrome (LQTS)
Enrollment Status: Recruiting
Publish Date: April 14, 2026
Intervention Type: Behavioral
Study Phase: Not Applicable

Summary: An important aspect of successful genomic medicine implementation is developing effective approaches for screening at-risk family members after probands are identified, also known as cascade screening. Most cascade screening studies conducted to date have been conducted outside the US, and very few studies have used a rigorous approach involving a comparator group or randomized controlled design. ...

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