HYPERLIPIDEMIA AND PANCREATITIS DURING PREGNANCY IN 2 SISTERS WITH A MUTATION IN THE LIPOPROTEIN-LIPASE GENE

Objective: To explore genetic mechanisms for pregnancy-associated panc reatitis and hyperlipidemia in two sisters. Design: Case history. Sett ing: Tertiary care facility with outpatient follow-up. Patients: Two s isters with acute pancreatitis and the acute respiratory distress synd rome were admitted (patient 1) or transferred (patient 2) to an intens ive care setting with severely elevated triglyceride levels. Patient 1 was in the last trimester of pregnancy; patient 2 was 1 month post pa rtum. Both patients were of French Canadian ancestry. Intervention: Ac ute treatment was directed at stabilizing both patients medically (wit h fat restriction) and one patient surgically (patient 2). Treatment w ith fat restriction, weight loss, and gemfibrozil was continued after hospitalization. R Results: Through DNA sequencing, we detected a muta tion at amino acid residue 188 of lipoprotein lipase (LPL), reflecting product from one allele of the LPL gene in which a glutamine residue was substituted for a glycine (gly 188-->glu). Conclusion: LPL plays a key role in regulating triglyceride levels in pregnancy. Mutations of LPL may place the patient at risk for pancreatitis. This heterozygous LPL mutation, gly188-->glu, is prevalent in certain ethnic groups and may be a common cause of pancreatitis associated with pregnancy.