Objective: To explore genetic mechanisms for pregnancy-associated pancreatitis and hyperlipidemia in two sisters.
Design: Case history.
Setting: Tertiary care facility with outpatient follow-up.
Patients: Two sisters with acute pancreatitis and the acute respiratory distress syndrome were admitted (patient 1) or transferred (patient 2) to an intensive care setting with severely elevated triglyceride levels. Patient 1 was in the last trimester of pregnancy; patient 2 was 1 month postpartum. Both patients were of French Canadian ancestry.
Intervention: Acute treatment was directed at stabilizing both patients medically (with fat restriction) and one patient surgically (patient 2). Treatment with fat restriction, weight loss, and gemfibrozil was continued after hospitalization.
Results: Through DNA sequencing, we detected a mutation 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 (gly188→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, gly 188→glu, is prevalent in certain ethnic groups and may be a common cause of pancreatitis associated with pregnancy.