Genetic Testing in Acute and Chronic Pancreatitis

Abstract Purpose of review Premature intracellular activation pancreatic zymogens leads to the initiation pancreatitis, which in up 25% chronic tissue destruction, exocrine and endocrine organ failure, a moderate increased risk cancer development. Whereas many cases, trigger damage is identified, diagnostic workup significant number patients does not reveal underlying etiology inflammation. In these alterations different susceptibility genes have been described be directly or indirectly involved disease this review, we want give an update on most important pancreatitis their impact clinical diagnostics stratification as well possible treatment options. Recent findings Genetic testing routinely implemented acute genetic variations are considered causative for development but confer rarely changes management. However, with recurrent episodes unknown after intensive work-up, family history relatives hereditary onset at young age, counseling recommended. Besides well-established such PRSS1, SPINK1, CPA1, CFTR, additional TRPV6 rare established recently identified significantly contribute involving molecular mechanisms. Summary When considered, propose screening least CFTR gene variants. The emergence next-generation sequencing methods could also render larger panels clinically meaningful detect variants high-risk phenotypes. Here summarize, evaluate, convey form practical recommendations current level knowledge respect definition, etiology, all forms inherited pancreatitis.