High risk of surgical intervention in hereditary pancreatitis

Background The aim of the study was to quantify the risk of surgical intervention in families with hereditary pancreatitis referred to the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC). Methods Recruitment to EUROPAC started in 1997; families were considered if two or more members had chronic pancreatitis of unknown aetiology. Families were tested for protease serine 1 (PRSS1) mutations using polymerase chain reaction restriction digestion, sequencing the PRSS1 gene-screened negative families. Clinical information about surgical intervention was obtained from family members and referring clinicians, and the cumulative incidence of surgical intervention in the N291 and R122H mutation groups was determined with the Kaplan–Meier method. Results Forty-four families had the R122H mutation, 21 the N291 mutation, and 31 were negative for both. Some 14 (35 per cent) of 40 patients (median age 26·5 (95 per cent confidence interval (c.i.) 21·5–36·3) years) with the N291 mutation had an operative procedure for complications of pancreatitis, compared with 21 (25 per cent) of 83 patients (median age 24 (95 per cent c.i. 13·8–35·8) years) with the R122H variant. This resulted in a cumulative lifetime risk for surgical intervention of 0·6 (95 per cent c.i. 0·5–0·8) for the R122H mutation and 0·6 (0·5–0·8) for the N291 mutation (P = 0·11, log rank test). Conclusion Hereditary pancreatitis carries a significantly increased risk of surgical intervention in this cohort of patients, which equates to an estimated lifetime risk of around 60 per cent. The risk of surgery appears to be independent of PRSS1 mutation type.