familial hypercholesterolemia

Definition of familial hypercholesterolemia

: an inherited metabolic disorder marked by excess accumulation of LDL cholesterol in the blood resulting especially in atherosclerosis and irregular yellow skin lesions

Examples of familial hypercholesterolemia in a Sentence

Recent Examples on the Web Xanthomas are most commonly seen in people with a genetic disease called familial hypercholesterolemia. — Adam Taylor, CNN, "Heart disease risk may show in your earlobes, eyes, fingers," 29 Mar. 2018

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Dictionary Entries near familial hypercholesterolemia

familia

familial

familial adenomatous polyposis

familial hypercholesterolemia

familiar

familiar face

familiar ground

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The first known use of familial hypercholesterolemia was in 1966

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More Definitions for familial hypercholesterolemia

familial hypercholesterolemia

noun

Medical Definition of familial hypercholesterolemia

: a disorder of lipid metabolism that is caused by defective or absent receptors for LDLs on cell surfaces, that is marked by an increase in blood plasma LDLs and by an accumulation of LDLs in the body (as in connective tissue) resulting in xanthomas, atherosclerosis, and an increased risk of heart attack and coronary artery disease, and that is inherited as an autosomal dominant trait