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• W1995239175 abstract "In 1954 the authors conducted a follow-up study of fifty persons with essential familial hypercholesterolemia, representing twelve families, who had previously been studied (1941 to 1943) by Kornerup. A total of seventeen (34 per cent) had died in the intervening period; ten (20 per cent) of coronary occlusion (at an average age of 47.2 years) and seven (14 per cent) of other diseases (at an average age of sixty-six years). The average age of the thirty-three survivors in 1954 was 48.5 years. Xanthomas of tendons and/or skin, including xanthelasmata palpebrarum, were present in 64 per cent in 1941 to 1943 and in 80 per cent in 1954 or at death. Extrapalpebral xanthomas (tuberosum or tendinosum) occurred in 50 per cent in 1941 to 1943 and in 68 per cent in 1954 or at death. Xanthelasmata palpebrarum were observed in 28 per cent in 1941 to 1943 and in 50 per cent in 1954 or at death. Arcus senilis was observed in 38 per cent in 1941 to 1943 and in 48 per cent in 1954 or at death. Angina pectoris was present in 22 per cent in 1941 to 1943 and in 40 per cent in 1954 or at death. Systematic examination of almost all of the members of these twelve families in 1954 revealed that 112 individuals, ranging in age from two to seventy-nine years, had hypercholesterolemia. (Nearly one-third of them are also included in the aforementioned follow-up study). Latent xanthomatosis, i.e., hypercholesterolemia without xanthomas, was observed in seventy (63 per cent), tendinous xanthomas were found in thirty-four (30 per cent), extrapalpebral cutaneous xanthomas in six (5 per cent), palpebral xanthelasmas in twenty (18 per cent), arcus senilis in twenty-seven (24 per cent), and angina pectoris in ten (9 per cent). Hypercholesterolemia without xanthomatosis is the rule in children and young adults; hypercholesterolemia with xanthomatosis in older adults. In each individual xanthomatosis has a tendency to progress, regression being exceptional. Hypercholesterolemia is present from childhood. The serum cholesterol increases steadily from childhood until the fifth decade, after which it seems to decrease. This corresponds with the findings in normocholesterolemic persons (cf. Keys). Essential familial hypercholesterolemia is transmitted as a dominant. The occurrence of xanthomas is not conditioned by homozygous heredity but depends largely upon the level of serum cholesterol. Angina pectoris is common and coronary occlusion is the most common cause of (sudden) death, often at a relatively early age." @default.
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• W1995239175 date "1956-07-01" @default.
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• W1995239175 title "Essential familial hypercholesterolemia and xanthomatosis" @default.
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• W1995239175 doi "https://doi.org/10.1016/0002-9343(56)90006-7" @default.
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