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Hereditary pancreatitis

David C Whitcomb, MD, PhD
Section Editor
Melvin B Heyman, MD, MPH
Deputy Editor
Alison G Hoppin, MD


Acute recurrent or chronic pancreatitis that occurs with an autosomal dominant pattern of inheritance has been termed hereditary pancreatitis. In some cases, hereditary pancreatitis may follow an autosomal recessive pattern of inheritance. When caused by mutations in the PRSS1 gene, this disorder has high penetrance and causes recurrent acute and chronic pancreatitis in both children and adults.  

Familial pancreatitis refers to pancreatitis from any cause that occurs in a family with an incidence that is greater than would be expected by chance alone, given the size of the family and the standardized incidence of pancreatitis within a defined population. Familial pancreatitis may or may not be caused by a genetic defect.

Issues related to hereditary pancreatitis will be reviewed here. The etiology, clinical manifestations, complications, and treatment of chronic pancreatitis in children and adults are discussed separately. (See "Causes and contributing risk factors for chronic pancreatitis in children and adolescents" and "Clinical manifestations and diagnosis of chronic and acute recurrent pancreatitis in children" and "Etiology and pathogenesis of chronic pancreatitis in adults" and "Clinical manifestations and diagnosis of chronic pancreatitis in adults" and "Overview of the complications of chronic pancreatitis" and "Treatment of chronic pancreatitis".)


There are at least three different inheritance patterns for chronic pancreatitis (see "Causes and contributing risk factors for chronic pancreatitis in children and adolescents", section on 'Genetic'). In addition, cases of pancreatitis without a family history may have a genetic basis (simplex case).

Autosomal dominant hereditary pancreatitis — This is most often associated with mutations in the serine protease 1 gene (PRSS1) on chromosome 7q35, which encodes trypsin-1 (cationic trypsinogen) [1-3]. Rarely, autosomal-dominant-appearing hereditary pancreatitis is identified in a kindred that does not have an identifiable PRSS1 mutation [4-6]. (See 'PRSS1' below.)

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Literature review current through: Nov 2017. | This topic last updated: Jul 14, 2017.
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