familial hypercholesterolemia

noun

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

Recent Examples of familial hypercholesterolemia from 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

These example sentences are selected automatically from various online news sources to reflect current usage of the word 'familial hypercholesterolemia.' Views expressed in the examples do not represent the opinion of Merriam-Webster or its editors. Send us feedback.

First Known Use of familial hypercholesterolemia

1966

in the meaning defined above

See Words from the same year

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Medical Dictionary

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