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What is familial hypercholesterolemia?

Familial hypercholesterolemia, also known as FH, is a genetic disorder which causes severely elevated cholesterol levels, particularly high levels of low-density lipoprotein (LDL, or “bad cholesterol”). Among people with FH, high cholesterol levels are present in childhood. The condition is caused by a mutation in the LDL receptor and can potentially lead to early heart attack and death, even in otherwise healthy people.

While normal cholesterol levels are approximately 200 mg/DL, patients with heterozygous FH (they’ve inherited the condition from one parent) typically have levels in the range of 350 to 550 mg/dL. Patients who are homozygous (they’ve inherited FH from both parents) are in the range of 650 to 1000 mg/dL.

If one parent has familial hypercholesterolemia (FH), there is a 50 percent chance that their son or daughter will also have it. Certain populations are known to have a higher prevalence of FH, particularly French Canadians and Dutch Afrikaners.

Familial hypercholesterolemia (FH) is estimated to affect as many as 1 in 300 or as few as 1 in 500 people in many populations, making FH among the most common of serious genetic disorders. There are approximately 620,000 FH patients living in the United States.

Familial hypercholesterolemia (FH) is a genetic defect that increases production of bad cholesterol in the blood. In this video, Patrick Moriarty, MD, explains the role that FH has in causing cardiovascular disease.

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