familial hypercholesterolemia

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

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.

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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.

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

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

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They include people like those in the study and people who have a genetic condition, familial hypercholesterolemia, that results in intractably high LDL levels and a grave risk of a heart attack.

Read more on Seattle Times