PRENATAL DIAGNOSIS OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLÆMIA. Expression of a Genetic Receptor Disease in Utero

MichaelS Brown, JosephL Goldstein, Kamiel Vandenberghe, JeanPierre Fryns, PetriT Kovanen, Roger Eeckels, Herman Van Den Berghe, JeanJacques Cassiman

Research output: Contribution to journalArticle

28 Scopus citations

Abstract

Cultured amniotic-fluid cells from a fetus at risk for homozygous familial hypercholesterolæmia (F.H.) almost completely lacked cell-surface receptors for plasma low-density lipoprotein (L.D.L.), as evidenced by direct measurement of binding, uptake, and degradation of 125I-L.D.L. Functional consequences of L.D.L. binding to the receptor-i.e., suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase and stimulation of cholesterol esterification-were proportionately reduced when compared with results in cultured amniotic cells from two control fetuses. On the basis of these findings, homozygous F.H. was diagnosed and the pregnancy was terminated at the 20th week. The diagnosis of homozygous F.H. was confirmed by a serum-cholesterol of the aborted fetus of 279 mg/dl, a value 9 times the mean of four control fetuses of similar gestational age. More than 80% of the serum-cholesterol of the affected fetus was contained within L.D.L. Prenatal diagnosis of homozygous F.H. now seems practical; moreover, the finding of a raised serum-L.D.L. in the affected fetus indicates that the L.D.L. receptor is normally functional as early as the 20th week of fetal life.

Original languageEnglish (US)
Pages (from-to)526-529
Number of pages4
JournalThe Lancet
Volume311
Issue number8063
DOIs
StatePublished - Mar 11 1978

ASJC Scopus subject areas

  • Medicine(all)

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