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Genetic Testing for Autosomal Dominant Hypercholesterolemia


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Autosomal Dominant Hypercholesterolemia

Slide 3

December 2008

ADH is one of the most common genetic diseases and occurs in all populations with a worldwide frequency estimated to be at 1 in 500 individuals. ADH occurs at a higher frequency in some populations especially populations in South Africa, Lebanon, and French Canada.

As implied by the name, ADH is an autosomal dominant genetic disease meaning that individuals who are affected usually have one affected parent and they may also have affected siblings. They also usually have a family history positive for premature CVD.

First-degree relatives of affected individuals, including offspring, have a 50% chance of having ADH.

Autosomal Dominant Hypercholesterolemia


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