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

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

From Science Daily

The study also examined Lynch syndrome, which raises the risk of colorectal and uterine cancers, and familial hypercholesterolemia, known for its impact on early-onset heart disease, heart attacks and stroke.

From Science Daily

As evidence, she points to studies of people with familial hypercholesterolemia—a condition that arises from a mutation in the gene encoding the LDL receptor protein.

From Scientific American

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

The test revealed she had familial hypercholesterolemia, an inherited condition that causes the body to churn out cholesterol.

From New York Times