Pii: S0009-9120(02)00283-7

Objectives: Familial chylomicronemia syndrome is characterized by massive accumulation of plasma chylomicrons, which typically results from an absolute deficiency of lipoprotein lipase (LPL). Chylomicronemia in pregnancy is a rare, but serious clinical problem and can be found in patients with underlying molecular defects in the LPL gene. We report the course and treatment of an 18 yr-old primigravida who had LPL deficiency and hypertriglyceridemia since birth. We also analyzed the molecular basis of her LPL deficiency. Design and methods: The patient’s antenatal course was complicated by extreme elevations of plasma triglycerides. Her management included a very low fat diet, pharmacotherapy with gemfibrozil in the third trimester, and intermittent hospitalization with periods of fasting supplemented by IV glucose feeding. We used DNA sequencing to determine whether mutations in LPL were present. Results: At 38 weeks of gestation, labor was induced, and the patient delivered a healthy 2.77 kilogram male. Postnatal triglycerides fell to prenatal levels. DNA sequencing showed that she was a compound heterozygote for mutant LPL: I T194 and R H243. Conclusions: This experience indicates that vigilance is required during pregnancy in patients with familial chylomicronemia due to mutant LPL. Gemfibrozil was used in this patient without apparent adverse effects. Compound heterozygosity for LPL mutations is an important underlying mechanism for LPL deficiency. © 2002 The Canadian Society of Clinical Chemists. All rights reserved.