Hyperlipidemia and pancreatitis during pregnancy in two sisters with a mutation in the lipoprotein lipase gene
LM Keilson, CPH Vary, DL Sprecher… - Annals of internal …, 1996 - acpjournals.org
LM Keilson, CPH Vary, DL Sprecher, R Renfrew
Annals of internal medicine, 1996•acpjournals.orgObjective: 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 …
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 …
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.
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