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.
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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.
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What are the latest Familial Hypercholesterolemia Clinical Trials?
Leveraging Behavioral Economics to Equitably Implement Cascade Screening in Individuals With Familial Hypercholesterolemia in Partnership With the Family Heart Foundation

Summary: Design, refine, and pilot the two implementation approaches using behavioral economics and then seek further feedback prior to the proposed clinical trial, consistent with these recommendations. Aim 1. Co-design both implementation strategies using behavioral economics in partnership with the Family Heart Foundation and key partners from diverse backgrounds. Aim 2. Pilot strategies with 20 patient...

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Prevalence and Mutation Rate of Lipa Gene in LIPIGEN Subjects With Clinical Diagnosis of FH

Summary: Familial Hypercholesterolemia (FH) is a monogenic autosomal dominant disease also known as Autosomal Dominant Hypercholesterolemia - ADH) that leads to dramatically increased levels of Low Density Lipoprotein (LDL) and total cholesterol associated to tendon xanthomas, xanthelasma, corneal arcus, premature atherosclerosis and to an increased risk of coronary artery disease (CAD) and myocardial infa...

What are the Latest Advances for Familial Hypercholesterolemia?
Lipoprotein apheresis in patients with familial hypercholesterolemia: a single center research.
Is Liver Transplant Curative in Homozygous Familial Hypercholesterolemia? A Review of Nine Global Cases.
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Advancements in the Treatment of Homozygous Familial Hypercholesterolemia.