FAMILIAL HYPERCHOLESTEROLEMIA AND MULTIPLE XANTHOMAS IN A 14 YEAR OLD GIRL.
FAMILIAL HYPERCHOLESTEROLEMIA AND MULTIPLE XANTHOMAS
Keywords:
Familial Hypercholesterolaemia, Xanthomas, hyperlipidaemia, APO B100Abstract
Familial hypercholesterolaemia is a genetic disorder of low density lipoprotein cholestrol (LDL-C) metabolism and it is characterized by elevated serum levels of LDL-C. This results in an increased risk of coronary heart disease and early death in affected individuals. Familial hypercholesterolaemia manifests cutaneously as plaques, nodules and tendinous xanthomas on the elbows, hands, knees, Achilles tendon and gluteal region. The goal of treatment is to reduce the LDL-C and to reduce the associated coronary heart disease risk. We present a case of familial hypercholesterolaemia in a 14 year old girl.
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