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Hyperlipidemia and Pancreatitis during Pregnancy in Two Sisters with a Mutation in the Lipoprotein Lipase Gene

Leonard M. Keilson, MD, MPH; Calvin P.H. Vary, PhD; Dennis L. Sprecher, MD; and Roger Renfrew, MD
[+] Article, Author, and Disclosure Information

From the Maine Medical Center Research Institute, Portland, Maine; University of Cincinnati Lipid Research Division, Cincinnati, Ohio; and Reddington Fairview Hospital, Skowhegan, Maine. Acknowledgment: The authors thank Remy Yunker for laboratory assistance. Requests for Reprints: Leonard Keilson, MD, MPH, Center for Lipids and Cardiovascular Health, Maine Medical Center, 48 Gilman Street, Portland, ME 04102. Current Author Addresses: Drs. Keilson and Vary: Center for Lipids and Cardiovascular Health, Maine Medical Center, 48 Gilman Street, Portland, ME 04102.

Copyright ©2004 by the American College of Physicians

Ann Intern Med. 1996;124(4):425-428. doi:10.7326/0003-4819-124-4-199602150-00007
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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.


Grahic Jump Location
Figure 1.
Double-stranded DNA cycle sequencing of exon 5 of lipoprotein lipase.

Lanes are G, A, T, C, from the left in all samples. Samples are normal (N) sequence, patient 1, and patient 2. Heterozygous patients have bands in both G and A lanes, showing the presence of both alleles. Base pair 818, the second nucleotide of the residue 188 codon, is indicated with an arrow.

Grahic Jump Location




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