PMID: 2119926Aug 1, 1990Paper

Familial hypoalphalipoproteinemias

Clinical and Investigative Medicine. Médecine Clinique Et Experimentale
J FrohlichP H Pritchard

Abstract

The familial hypoalphalipoproteinemias are a heterogeneous group of rare lipoprotein disorders characterized by extremely low levels of plasma high density lipoproteins (HDL) and, in most cases, autosomal recessive inheritance. Most of these conditions present distinctive and diagnostic clinical and laboratory abnormalities. In spite of the marked reductions in HDL, however, many of these conditions are not associated with premature atherosclerosis. This is true of Tangier disease, Fish Eye disease, lecithin: cholesterol acyltransferase deficiency, and of some variants of apo Al. Another condition, defined as a primary and familial decrease in HDL-cholesterol levels in the absence of other lipoprotein abnormalities. that is associated with premature atherosclerosis was originally called Familial Hypoalphalipoproteinemia but is better referred as to Familial Isolated Hypoalphalipoproteinemia. At present, the prevalence, inheritance, and the underlying defect(s) in this disorder are unknown. Decreased or absent synthesis of apo A-I due to a gene defect is the cause of apo A-I/C-III and apo A-I/C-III/A-IV deficiency. However, the etiology of the low levels of HDL is unclear for most of the remaining familial hypoalphalipoproteinem...Continue Reading

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