IDENTIFICATION OF HOMOZYGOUS LIPOPROTEIN-LIPASE GENE MUTATION IN A WOMAN WITH RECURRENT AGGRAVATION OF HYPERTRIGLYCERIDEMIA INDUCED BY PREGNANCY

WE herein report a case of a 40-year-old Japanese woman (patient IT) w ith a history of recurrent aggravation of hypertriglyceridaemia, pancr eatitis and miscarriages in three previous pregnancies. However, stric t dietary intervention was applied during a fourth pregnancy. As a res ult, acute pancreatitis was avoided, and the patient gave birth to a h ealthy infant. In patient IT, the underlying etiology of the recurrent aggravation of hypertriglyceridaemia during pregnancy was a lipoprote in lipase (LPL) gene aberration, She was homozygous for LPL deficiency due to a nonsense mutation (TGG(1401) --> TGA/Trp(382) --> Stop) in e xon 8 of the LPL gene, which resulted in the absence of LPL activity a nd immunoreactive LPL mass, Our findings indicate that, in LPL deficie ncy pregnancy seriously exacerbates hypertriglyceridaemia and increase s the risk of acute pancreatitis, which endangers both the mother and fetus. Early diagnosis of LPL deficiency and appropriate management th ereof are essential for normal childbirth.