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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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A Mayo Clinic study reports that current genetic screening guidelines fall short in identifying the majority of individuals with familial hypercholesterolemia, an inherited condition that can lead to extremely high cholesterol and early heart disease.

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

As a result, people with familial hypercholesterolemia have abnormally high levels of LDL cholesterol and, if left untreated, are up to 13 times more likely to develop coronary heart disease than someone without the mutation.

From Scientific American • Dec. 2, 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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