Copyright ©The Author(s) 2003. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jan 15, 2003; 9(1): 1-4
Published online Jan 15, 2003. doi: 10.3748/wjg.v9.i1.1
Hereditary pancreatitis
Richard M Charnley
Richard M Charnley, Consultant Surgeon, Freeman Hospital, Newcastle upon Tyne, NE7 7DN, UK
Author contributions: Richard M Charnley contributed all to the work.
Correspondence to: Richard M Charnley, DM FRCS, Consultant Surgeon, Freeman Hospital, Newcastle upon Tyne, NE7 7DN, UK.
Received: November 30, 2002
Revised: December 4, 2002
Accepted: December 8, 2002
Published online: January 15, 2003

Hereditary pancreatitis is an autosomal dominant condition, which results in recurrent attacks of acute pancreatitis, progressing to chronic pancreatitis often at a young age. The majority of patients with hereditary pancreatitis express one of two mutations (R122H or N29I) in the cationic trypsinogen gene (PRSS1 gene). It has been hypothesised that one of these mutations, the R122H mutation causes pancreatitis by altering a trypsin recognition site so preventing deactivation of trypsin within the pancreas and prolonging its action, resulting in autodigestion. Families with these two mutations have been identified in many countries and there are also other rarer mutations, which have also been linked to hereditary pancreatitis.

Patients with hereditary pancreatitis present in the same way as those with sporadic pancreatitis but at an earlier age. It is common for patients to remain undiagnosed for many years, particularly if they present with non-specific symptoms. Hereditary pancreatitis should always be considered in patients who present with recurrent pancreatitis with a family history of pancreatic disease. If patients with the 2 common mutations are compared, those with the R122H mutation are more likely to present at a younger age and are more likely to require surgical intervention than those with N29I. Hereditary pancreatitis carries a 40% lifetime risk of pancreatic cancer with those patients aged between 50 to 70 being most at risk in whom screening tests may become important.

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