Familial Hypercholesterolemia - Epidemiology

Epidemiology

In most populations studied, heterozygous FH occurs in about 1:500 people, but not all develop symptoms. Homozygous FH occurs in about 1:1,000,000.

LDLR mutations are more common in certain populations, presumably because of a genetic phenomenon known as the founder effect—they were founded by a small group of individuals, one or several of whom was a carrier of the mutation. The Afrikaner, French Canadians, Lebanese Christians, and Finns have high rates of specific mutations that make FH particularly common in these groups. APOB mutations are more common in Central Europe.

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