Hereditary pancreatitis
Journal Title: Postępy Nauk Medycznych - Year 2014, Vol 27, Issue 3
Abstract
Hereditary pancreatitis is a rare autosomal dominant disorder with a penetrance of approximately 80%. HP was first described in 1952 by Comfort and Steinberg, and in 1996 associated with PRSS1 gene mutation by Whitcomb et al. The most frequent mutations of PRSS1 gene are R122H and N29I, which constitute about 90% of the mutations encountered. In Central Europe the second most common mutation after R122H is R122C. Characteristic for hereditary pancreatitis is an early onset of the disease, with median age 10 years. The studies revealed that the clinical course of HP may be mild for many years, but with great probability it leads to severe complications of chronic pancreatitis, such as endocrine and exocrine insufficiency and pancreatic cancer. Treatment of hereditary pancreatitis involves pain management, preventing acute attacks, treatment of maldigestion/malnutrition, diabetes mellitus and local organ complications. Endoscopic and surgical interventions are often needed. Risk of the pancreatic cancer is about 50-fold increased. Therefore, HP patients should strongly avoid environmental risk factors for PC, especially smoking. Pancreatic cancer substantially increases mortality in patients with hereditary pancreatitis. According to the recommendations, HP patients after 40 years of age should have performed EUS and CA 19-9 marker level once a year.
Authors and Affiliations
Karolina Wejnarska, Elwira Kołodziejczyk, Jarosław Kierkuś, Grzegorz Oracz
Keywords
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