A Case of Familial Hypercholesterolemia with Multiple Large Tendon Xanthomas.
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概要
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A 57-year-old man developed multiple large tendon xanthomas in the extremities. His parents were free from any xanthomas but two of his four brothers had some xanthoma nodules as him. Laboratory examination revealed the increased plasma cholesterol level (250mg/dl) and decreased LDL-recepter activities. Neither phytosterol nor cholestanol was detected in the blood. Histologically, the xanthomas had many foam cells and scattered Touton type giant cells. He had no neurological abnormalities. Thus, we excluded phytosterolemia and cerebrotendinous xanthomatosis and diagnosed the case as heterozygous familial hypercholesterolemia. Heterozygous familial hypercholesterolemia is an autosomal dominant disease.
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