Hôpital Beaujon, Service de pancréatologie, DMU Digest, 100, boulevard du Général Leclerc, 92110 Clichy
Centre de référence des maladies rares du pancréas, PaRaDis, https://www.maladie-pancreas.fr
INSERM, UMR 1149, CRI, Université de Paris
The occurrence of chronic pancreatitis is most often the result of a combination of genetic and environmental factors. Genetic pancreatitis includes 1) hereditary pancreatitis secondary to PRSS1 gene mutations, with autosomal dominant inheritance, and 2) a group of pancreatitis associated with mutations of predisposing genes with autosomal recessive transmission, and with variable accountability which requires the association with other exo and endogen co-factors. Genetic testing should be proposed if patients have idiopathic chronic pancreatitis or had at least two episodes of acute pancreatitis with no known causes or had a family history of idiopathic chronic pancreatitis.
In a genetic context, the first symptoms usually appear in childhood. Clinical signs are recurrent pancreatitis, chronic pain, exocrine (steatorrhea) and endocrine (diabetes) pancreatic insufficiencies. The management of patients with genetic pancreatitis is similar to that of any pancreatitis, whatever the cause. It has to be conducted in a multidisciplinary manner and to be mainly focused on symptoms. Smoking cessation is of paramount importance to limit the natural history of the disease and to decrease the risk of pancreatic adenocarcinoma. The social and psychological burden must always be considered. Regular annual clinical and biological follow-up is recommended to detect complications of pancreatitis. For hereditary pancreatitis, a yearly screening for pancreatic adenocarcinoma is recommended for patients aged more than forty years old.