Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome

Pancreas. 2006 Mar;32(2):215-9. doi: 10.1097/01.mpa.0000202942.93578.dd.

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.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Chronic Disease
  • Chylomicrons / blood*
  • Chylomicrons / genetics
  • Humans
  • Hypertriglyceridemia / genetics*
  • Lipoprotein Lipase / genetics
  • Male
  • Middle Aged
  • Mutation
  • Pancreatitis / complications*
  • Pancreatitis / genetics
  • Recurrence
  • Syndrome
  • Treatment Outcome

Substances

  • Chylomicrons
  • Lipoprotein Lipase