WILLIAM R. HAZZARD, M.D.; THEODORE F. O'DONNELL; Y. L. LEE
The inheritance of broad-β disease (as specified by a type III lipoprotein pattern) has remained an enigma. Previous reports have variously implicated a single gene (autosomal dominant mode), a double dose of a single gene (autosomal recessive), two separate genes (mixed heterozygosity), or multiple genes (polygenic inheritance). The present study of a single, large kindred of 108 members spanning 4 generations provides evidence for an autosomal dominant mode, since at least 1 member of the first generation pair was normal, at least 5 of their 9 children had type III patterns, and at least 2 of these (whose spouses were normal) transmitted this pattern to their offspring. The findings also suggest that in this kindred the common occurrence of hypertriglyceridemia (in a type IV pattern) may represent either a variable phenotypic expression of the gene for broad-β disease or the coexistence of a second, independent genetic lipid disorder.
WILLIAM R. HAZZARD, THEODORE F. O'DONNELL, Y. L. LEE. Broad-β Disease (Type III Hyperlipoproteinemia) in a Large Kindred: Evidence for a Monogenic Mechanism. Ann Intern Med. 1975;82:141–146. doi: 10.7326/0003-4819-82-2-141
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Published: Ann Intern Med. 1975;82(2):141-146.
Cardiology, Coronary Risk Factors, Dyslipidemia.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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