Hereditary Tendinous and Tuberous Xanthomatosis without Hyperlipidemia

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Abstract
Multiple tendinous and tuberous xanthomas were found in two siblings with plasma lipids that were quantitatively and qualitatively normal. The predominant lipid in the xanthomatous lesions was esterified cholesterol, and the lipid composition, phosphatide distribution and ester fatty acids of xanthoma were similar to those of hyperlipidemic xanthomas. Cholesterol synthesis in these normolipidemic xanthomas was similar to that in hyperlipidemic xanthomas and less than that in skin. The results of electron microscopy and the slow rate of cholesterol synthesis suggested that plasma lipids, despite norrrtal levels, were the source of the xanthomatous material, although the precise mechanism of lipid accumulation could not be elaborated.