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

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

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.

From Seattle Times

When to consider testing: For familial hypercholesterolemia, testing can make sense if you have a family history of high cholesterol and an LDL reading of more than 190 mg/dL confirmed on two occasions.

From Washington Post