Familial hypercholesterolemia captures gene test controversies.

摘要

You can't watch This Week with George Steph-anopoulos, or riffle through The Economist without being inundated with ads for statins. Hypercholesterolemia may be the most medicated disease, and anyone on statins likely got there because of a fondness for high-dietary cholesterol, saturated fat, and a sedentary lifestyle. Familial hypercholesterolemia (FH), on the other hand, is caused by inherited mutations in the LDL receptor gene. Someone with heterozygous FH (one parent contributes a genetic mutation) typically has a total cholesterol count of 300 to 400 milligrams per deciliter and a level of low-density lipoprotein (LDL), the "bad" cholesterol, in excess of 200 mg/dL. Homozygous FH (both parents contribute genetic mutations) is characterized by a total cholesterol level that can reach 1,000 mg/dL. Either type is deadlier than acquired hypercholesterolemia.