Hereditary pancreatitis is characterized by all except:
O Hereditary pancreatitis Autosomal dominant disease Due to a mutation of trypsinogen gene, or PRSS1 (Protease, Serine1) results in premature, intrapancreatic activation of trypsinogen The incidence is equal in both sexes. O Clinical features Characterized by recurrent episodes of acute pancreatitis of familial aggregation of chronic pancreatitis Typically, patients first present in childhood or adolescence with a abdominal pain and are found to have chronic calcific pancreatitis on imaging studies. Progressive pancreatic dysfunction is common and many patients present with symptoms due to pancreatic duct obstruction The risk of subsequent carcinoma formation is up to 40% age of onset for carcinoma is > 50 years old. 30% of hereditary pancreatitis leads to chronic pancreatitis It is an autosomal dominant disease with penetrance that is generally accepted to be [?]80%. O Hereditary risk factors for Ca pancreas: Hereditary pancreatitis Hereditary breast and ovarian Ca (associated with BRCA-1 mutation) HNPCC Ataxia telangiectasia Familial atypical multiple mole melanoma (FAMMM) syndrome Peutz-Jeghers syndrome Management Treatment of HP resemble that of chronic pancreatitis of other causes. Treatment focuses on enzyme and nutritional supplementation, pain management, pancreatic diabetes, and local organ complications, such as pseudocysts, bile duct or duodenal obstruction
Equal prevalence in males and females
Autosomal recessive inheritance
Mutation of trypsinogen gene on long arm of chromosome 7
Penetrance is generally accepted to be [?]80%.
JIPMER 2017