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PRELIMINARY STUDY OF FAMILY WITH HEREDITARY HYPERCHOLESTEROLÆMIC XANTHOMATOSIS
Author(s) -
SCOTT P. J.
Publication year - 1961
Publication title -
australasian annals of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0571-9283
DOI - 10.1111/imj.1961.10.2.121
Subject(s) - cholesterol , serum cholesterol , medicine , incidence (geometry) , disease , demography , physics , optics , sociology
Summary A study has been made of 79 members comprising three generations of a family affected by hereditary idiopathic hypercholesterolæmia. Eighteen of 64 living members were found to have hypercholesterolæmia, and the distribution suggested a dominant trait type of inheritance. All the lesions traditionally associated with the hypercholesterolæmic state were found in members of this family, but only peripheral skin and tendon xanthomas showed a definite relationship to serum cholesterol level. Arcus senilis and xanthelasma palpebrarum occurred in individuals with normal serum cholesterol levels as well as in hypercholesterolæmic subjects. Three adults with hypercholesterolæmia showed none of the external signs. These lesions developed in no fixed sequence, and time relationships were extremely variable in hypercholesterolæmic individuals as well as in those with normal serum cholesterol levels. It was concluded that the serum cholesterol level might not be the critical factor in the development of these lesions. A high incidence of coronary artery disease correlated well with the hypercholesterolæmic state, but not with external signs. In this family hypercholesterolæmia was not associated with hyperuricæmia.