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Genetic Testing for Autosomal Dominant Hypercholesterolemia



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Autosomal Dominant Hypercholesterolemia

Slide 2

December 2008

Autosomal Dominant Hypercholesterolemia or ADH is characterized by elevated total and LDL cholesterol. Classic clinical signs of ADH include lipid deposits, such as skin and tendinous xanthomas, and atheromas. Arcus corneae, a white ring of lipid deposition around the cornea, occurs in about 50% of those with ADH who are over the age of 30.

Premature atherosclerosis and premature cardiovascular disease are common in ADH with a mean age of onset of cardiovascular disease (CVD) at 40–45 years in men and 50–55 years in women. If ADH is left untreated, 75% of individuals will have CVD by the age of 60.

Autosomal Dominant Hypercholesterolemia

 


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