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Familial Hypercholesterolemia (FH)

FH Type IIA and IIB are inherited disorders characterized by elevated serum cholesterol. Occurring in 1 in 1,000, it affects Asians, blacks and whites. It can lead to premature atherosclerosis, tendinous xanthomas (fatty plaquing on tendons) and increases the risk for ischemic heart disease three-fold. At birth, cholesterol levels are high, elevating to levels of 500 to 1200 mg/dl in some adults. Xanthomas most often appear in the 20s on extensor tendons of the hands, wrist and elbow, the heel and the tibia. Treatment includes diet modification and lipid-lowering drug therapy.