METHODS

All French genetic laboratories (response rate 100%), pediatricians, and gastroenterologists (response rate 84%) were contacted. Inclusion criteria: mutation in the PRSS1 gene or recurrent, acute, or chronic pancreatitis, with no precipitating factors in two first-degree relatives or≥ 3 second-degree relatives in≥ 2 generations. Diagnosis of PA was based on histological records.

RESULTS

Seventy-eight families and 200 patients were included (181 alive, 6,673 person-years, median number of generations 3, men 53%, alcoholism 5%, and smoking 34%). PRSS1 mutations were searched for in 96% of the patients and were detected in 68%(maternal inheritance 54%, R122H 78%, N29I 12%, and others 10%). Ten PA were diagnosed (median age 55 yr). SIR of PA for the whole population, men, and women were 87 (95% CI 42–113), 69 (25–150), and 142 (38–225), respectively, with no influence of genetic mutation. At ages 50 and 75 yr, the cumulated risk of PA was 11% and 49% for men and 8% and 55% for women, respectively. Smoking and diabetes mellitus were the main associated risk factors.

CONCLUSION

Patients with HP have a marked relative and absolute increased risk of PA as compared to the general population, especially in smokers. There is no correlation with the type of PRSS1 mutation.