User:Mr. Ibrahem/Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a group of genetic disorders characterized by very high cholesterol levels. Symptoms may include yellowish lipid deposits within the skin, tendons, or eyes. Complications may include heart disease and stroke at an early age. Among those less than 45 who have a heart attack, 20% have FH.

It typically occurs as a result of a mutation in the gene for the LDL receptor, apolipoprotein B (ApoB), or PCSK9. One (heterozygous) or both (homozygous) genes may be involved. Mutations in other genes may also rarely cause the disease. Screening the general population for the condition is recommended. FH may be classified as a type IIa, IIb, or III dyslipidemia.

Treatment involves a healthy diet, stopping smoking, and exercise. The first line medication is high dose statins to which ezetimibe or PCSK9 inhibitors may be added. Other measures may include mipomersen, lomitapide, LDL apheresis (removal of LDL in a method similar to dialysis) and liver transplantation.

FH affects about 1 in 250 people in the United States. About 1 in 400 people have one copy of a gene affecting the LDL receptor; while two copies occurs in 1 about in a million. Males and females are affected equally frequently. Some populations such as French Canadians and Dutch Afrikaners are more commonly affected. The condition was first described in 1938.