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Article
December 1949

CORONARY HEART DISEASE AND XANTHOMA TUBEROSUM ASSOCIATED WITH HEREDITARY HYPERLIPEMIAStudy of Thirty Affected Persons in a Family

Author Affiliations

SALT LAKE CITY

From the Department of Pathology, Stanford University School of Medicine, San Francisco.

Arch Intern Med (Chic). 1949;84(6):1002-1019. doi:10.1001/archinte.1949.00230060159012
Abstract

CLINICAL investigations concerning disturbances in lipid metabolism have opened a new chapter in the etiology of coronary heart disease. Recent studies have revealed an extremely high incidence of xanthomas and specific types of heart disease associated with hyperlipemia, especially hypercholesteremia.

The earlier investigators were concerned mainly with the etiology of xanthomatous lesions of the skin and tendons. These deposits have long been considered medical curiosities, and even today little is known concerning their formation. Tuberous xanthomas were first described by Addison and Gull,1 in 1851, but it was not until 1920 that Chauffard. Laroche and Grigaut2 and Burns3 demonstrated that there was an increased amount of total serum cholesterol in patients with xanthomas. In 1929, Wile, Eckstein and Curtis4 stated that the formation of xanthomas could not be explained solely by the theory of hypercholesteremia and that a defect in fat metabolism, in which cholesterol undoubtedly

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