familial hypercholesterolemia

American  

noun

Pathology.

1. an inherited metabolic disorder caused by a lack or malfunction of receptors for the low-density lipoproteins that activate removal of cholesterol from the blood. FH.

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Example Sentences

Researchers discovered that nearly 90% of participants with familial hypercholesterolemia would not have been selected for standard genetic testing.

From Science Daily • Dec. 8, 2025

Some human diseases, such as familial hypercholesterolemia, are caused by the failure of receptor-mediated endocytosis.

From Textbooks • Jun. 9, 2022

Riksen says some of the most direct evidence came from studying people with familial hypercholesterolemia, a genetic condition causing high levels of blood cholesterol.

From Scientific American • Dec. 1, 2021

These include patients with the inherited condition familial hypercholesterolemia, which causes abnormally high levels of LDL, or atherosclerotic heart conditions.

From Los Angeles Times • Nov. 13, 2015

For others, statins just don't do the job -- including people with familial hypercholesterolemia, an inherited condition that causes very high LDL levels and heart attacks at an early age.

From US News • Aug. 27, 2015