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Pancreatitis, Hyperlipidemia, and Pregnancy in Two Sisters
- Stanley H. Hsia, MD;
- Philip W. Connelly, PhD; and
- Robert A. Hegele, MD
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TO THE EDITOR:
We read with great interest Kielson and colleagues' report [1] of severe hypertriglyceridemia and pancreatitis associated with pregnancy and the administration of cholestyramine in two sisters heterozygous for the missense mutation Gly→Glu at position 188 of the lipoprotein lipase (LPL) gene. The medical care and subsequent molecular characterization of these sisters were excellent. However, both homozygosity and heterozygosity for this same mutation have been reported to be associated with pregnancy-induced pancreatitis [2, 3]. The mechanism was presumed to be an estrogen-related exacerbation of a preexisting lipolytic defect of triglyceride clearance. However, this mutation alone clearly cannot account for the phenotype because all other female relatives who were carriers did not become chylomicronemic with pregnancy [2, 3].
Furthermore, the severe hypertriglyceridemia of pregnancy is not always caused by a structural abnormality of LPL. We recently described a woman with severe hypertriglyceridemia associated with pregnancy at the eighth week of gestation. After the administration of heparin, lipolytic activity in the nonpregnant state was normal in this patient; the coding sequence of her LPL gene was also normal [4]. However, our patient was a compound heterozygote for the apolipoprotein E4/2 genotype. Others have shown that the presence of variant isoforms of apolipoprotein E may contribute to hypertriglyceridemia [5], but as discussed by Kielson and colleagues, variant apolipoprotein E is not sufficient to cause the phenotype.
These exceptions show that heterozygosity for variant LPL, apolipoprotein E, or both is not necessary or sufficient for the explanation of severe pregnancy-induced hyperlipidemia. We suggest that the LPL mutation in the sisters described by Kielson and colleagues was ascertained because LPL was a good candidate gene and that the mutation was not the sole cause of the phenotype. A second variant genetic locus causing increased hormone-dependent synthesis of triglyceride-rich lipoproteins could possibly complete the explanation for hypertriglyceridemia in these patients.
Stanley H. Hsia, MD
Philip W. Connelly, PhD
Robert A. Hegele, MD
St. Michael's Hospital; University of Toronto; Toronto, Ontario, Canada
The Editors welcome submissions for possible publication in the Letters section. Authors of letters should:
•Include no more than 300 words of text, three authors, and five references
•Type with double-spacing
•Send three copies of the letter, an authors' form signed by all authors, and a cover letter describing any conflicts of interest related to the contents of the letter.
Letters commenting on an Annals article will be considered if they are received within 6 weeks of the time the article was published. Only some of the letters received can be published. Published letters are edited and may be shortened; tables and figures are included only selectively. Authors will be notified that the letter has been received. If the letter is selected for publication, the author will be notified about 3 weeks before the publication date. Unpublished letters cannot be returned.
Annals welcomes electronically submitted letters.
- Copyright ©2004 by the American College of Physicians
