A NOVEL GLU421LYS SUBSTITUTION IN THE LIPOPROTEIN-LIPASE GENE IN PREGNANCY-INDUCED HYPERTRIGLYCERIDEMIC PANCREATITIS

Severe hypertriglyceridemia is an uncommon pathological finding in pre gnant women if there is no prior history of hyperlipidemia. A partial reduction in lipoprotein lipase (LPL) activity due to a mutation in th e LPL gene, is often an associating factor. Here we report a novel LPL gene mutation (Glu421Lys), in a previously healthy primigravid woman who died from hypertriglyceridemia-induced pancreatitis during the las t trimester of pregnancy. The patient was heterozygous for this mutati on which causes a charge inversion in the C-terminal domain of LPL res ulting in a moderate reduction in catalytic activity, both in vivo and in vitro. These data support the role of partial LPL deficiency in th e pathogenesis of severe gestational hypertriglyceridemia. (C) 1998 El sevier Science B.V.