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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.


Example Sentences

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Out of these participants, the team identified 419 people with genetic variants known to cause familial hypercholesterolemia.

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

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