Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome.
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.
Truninger
Kaspar
K
Clinic of Gastroenterology, University Hospital Berne, CH-3010 Berene, Switzerland. kaspar.truninger@ksa.ch
Schmid
Peter A
PA
Hoffmann
Michael M
MM
Bertschinger
Philipp
P
Ammann
Rudolf W
RW
D000208:Acute Disease; D002908:Chronic Disease; D002914:Chylomicrons / Q000097:blood* / Q000235:genetics; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010195:Pancreatitis / Q000150:complications* / Q000235:genetics; D012008:Recurrence; D013577:Syndrome; D016896:Treatment Outcome
D002914:Chylomicrons; D008071:Lipoprotein Lipase