Case ReportRecurrent Acute and Chronic Pancreatitis in Two Brothers With Familial Chylomicronemia SyndromeTruninger, Kaspar MD*; Schmid, Peter A. MD†; Hoffmann, Michael M. PhD‡; Bertschinger, Philipp MD†; Ammann, Rudolf W. MD†Author Information From the *Clinic of Gastroenterology, University Hospital Berne, CH-3010 Berene, Switzerland; †Division of Gastroenterology, Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland and ‡Division of Clinical Chemistry, University of Freiburg, Freiburg, Germany. Received for publication September 16, 2005; accepted October 11, 2005. Reprints: Kaspar Truninger, MD, Division of Gastroenterology, Department of Internal Medicine, Cantonal Hospital, CH-5000 Aarau, Switzerland (e-mail: [email protected]). Pancreas: March 2006 - Volume 32 - Issue 2 - p 215-219 doi: 10.1097/01.mpa.0000202942.93578.dd Buy Metrics Abstract Abstract: The chylomicronemia syndrome is well recognized as a rare etiologic factor of acute pancreatitis; however, whether hypertriglyceridemia can cause chronic pancreatitis (CP) remains unclear. We describe the long-time course of 2 brothers with the familial chylomicronemia syndrome caused by identical compound heterozygous mutations in the lipoprotein lipase (LPL) gene with markedly reduced LPL activity. Other etiologic factors were excluded, including mutations in the PRSS1, SPINK1, and CFTR gene. Although both brothers had recurrent acute pancreatitis and the same LPL genotype, CP became evident in only one patient. Progression to CP was associated with a more severe disease course. Thus, the chylomicronemia syndrome may cause CP in the absence of other known causative factors, and similar to alcoholic and hereditary CP, a more severe disease course is associated with disease progression. © 2006 Lippincott Williams & Wilkins, Inc.