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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

In the human genetic disease familial hypercholesterolemia, the LDL receptors are defective or missing entirely.

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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