Hereditary Pancreatitis: Dilemmas in Differential Diagnosis and Therapeutic Approach

Abstract

Hereditary pancreatitis (HP) is a rare, heterogeneous familial disease and should be suspected in any patient who has suffered at least two attacks of acute pancreatitis for which there is no underlying cause and unexplained chronic pancreatitis with a family history in a first- or second-degree relative. Genetic factors have been implied in cases of familial chronic pancreatitis. The most common PRSS1 mutations worldwide are the R122H and N29I variants. HP usually appears with an acute, a recurrent acute, and a chronic phase, referring to the inflammation of the pancreas and the symptoms' onset and duration. The clinical features of acute pancreatitis begin in childhood and last less than 6 months. HP carries a 50-70-fold increased risk of pancreatic cancer within 7-30 years of disease onset. HP diagnosis is defined by the presence of a detected cationic trypsinogen gene mutation (with or without clinical or radiological manifestations of chronic pancreatitis) or when the patient's family satisfies the requirements of the EUROPAC. With regard to the therapeutic approach, pancreatic enzyme replacement therapy and analgesics are offered to control pain. In addition, endoscopic and surgical intersections are reserved for all relevant complications. Unfortunately, surgical removal of affected pancreatic tissue does not necessarily guarantee the patient's long-term survival. Furthermore, the prognostic factors and the efficacy of extended resection remain controversial.