Hereditary Pancreatitis – A Review of Current Concepts and Management

Abstract

(1) Background: Hereditary Pancreatitis is a rare cause of acute pancreatitis. These patients usually present at a young age with recurrent episodes of acute pancreatitis that usually progresses to chronic pancreatitis with associated endocrine and exocrine failure. Hereditary pancreatitis also carries an increased lifetime risk of pancreatic adenocarcinoma. These high risk patients need early intervention where appropriate by specialist multidisciplinary teams and tailored long term management. (2) Methods: A review of the relevant literature regarding the epidemiology , the genetic mechanisms responsible for the disease and current management strategies for Hereditary Pancreatitis was performed. (3) Results: Several underlying genetic driver mutations for Hereditary Pancreatitis have been identified, notably PRSS1, SPINK1, CFTR and CRTC mutations. Recurrent episodes of pancreatitis result in a progressive loss of normal pancreatic parenchyma, which is eventually replaced with non-functioning fibrosis. High rates of diabetes and exocrine insufficiency is observed in this cohort of patients. The cumulative yearly risk of developing pancreatic cancer in patients with hereditary pancreatitis is significantly higher than the general population. Current indications for genetic testing for hereditary pancreatitis is based on low levels of evidence. Total pancreatectomy and auto islet transplantation is a definitive management strategy for hereditary pancreatitis. Early intervention may serve as an opportunity to improve islet cell yield, successful engraftment and long term endocrine function. (4) Conclusions: Hereditary Pancreatitis is associated with a significant morbidity, risk of chronic pancreatitis and pancreatic cancer. Through combining early diagnosis and intervention with a greater understanding of not only of the genetic mutation the individual carries but their own personal risk of disease progression, allows for a personalised treatment strategy for these patients.