title: Identification of homozygous lipoprotein lipase gene mutation in a woman with recurrent aggravation of hypertriglyceridaemia induced by pregnancy.
abstract: We herein report a case of a 40-year-old Japanese woman (patient IT) with a history of recurrent aggravation of hypertriglyceridaemia, pancreatitis and miscarriages in three previous pregnancies. However, strict dietary intervention was applied during a fourth pregnancy. As a result, acute pancreatitis was avoided, and the patient gave birth to a healthy infant. In patient IT, the underlying etiology of the recurrent aggravation of hypertriglyceridaemia during pregnancy was a lipoprotein lipase (LPL) gene aberration. She was homozygous for LPL deficiency due to a nonsense mutation (TGG1401 --> TGA/Trp382 --> Stop) in exon 8 of the LPL gene, which resulted in the absence of LPL activity and immunoreactive LPL mass. Our findings indicate that, in LPL deficiency, pregnancy seriously exacerbates hypertriglyceridaemia and increases the risk of acute pancreatitis, which endangers both the mother and fetus. Early diagnosis of LPL deficiency and appropriate management thereof are essential for normal childbirth.
authors.affiliation: Third Department of Internal Medicine, Hirosaki University School of Medicine, Aomori, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Suga
authors.forename: N
authors.initials: N
authors.lastname: Tamasawa
authors.forename: I
authors.initials: I
authors.lastname: Kinpara
authors.forename: H
authors.initials: H
authors.lastname: Murakami
authors.forename: N
authors.initials: N
authors.lastname: Kasai
authors.forename: T
authors.initials: T
authors.lastname: Onuma
authors.forename: Y
authors.initials: Y
authors.lastname: Ikeda
authors.forename: A
authors.initials: A
authors.lastname: Takagi
authors.forename: T
authors.initials: T
authors.lastname: Suda
mesh_terms: D000026:Abortion, Habitual; D000208:Acute Disease; D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000175:diagnosis* / Q000235:genetics; D015228:Hypertriglyceridemia / Q000201:enzymology / Q000209:etiology*; D008071:Lipoprotein Lipase / Q000235:genetics*; D009154:Mutation; D010195:Pancreatitis / Q000209:etiology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology / Q000209:etiology*; D012008:Recurrence
chemical_list: D008071:Lipoprotein Lipase