A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis.
Severe hypertriglyceridemia is an uncommon pathological finding in pregnant women if there is no prior history of hyperlipidemia. A partial reduction in lipoprotein lipase (LPL) activity due to a mutation in the 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 last trimester of pregnancy. The patient was heterozygous for this mutation which a charge inversion in the C-terminal domain of LPL resulting in a moderate reduction in catalytic activity, both in vivo and in vitro. These data support the role of partial LPL deficiency in the pathogenesis of severe gestational hypertriglyceridemia.
Henderson
H
H
Department of Chemical Pathology, University of Cape Town, South Africa. henders@ulam.generes.ca
Leisegang
F
F
Hassan
F
F
Hayden
M
M
Marais
D
D
D000328:Adult; D002384:Catalysis; D017809:Fatal Outcome; D005260:Female; D018698:Glutamic Acid / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D015228:Hypertriglyceridemia / Q000150:complications / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000097:blood / Q000235:genetics*; D008239:Lysine / Q000235:genetics*; D010195:Pancreatitis / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011248:Pregnancy Complications
D018698:Glutamic Acid; D008071:Lipoprotein Lipase; D008239:Lysine