Case Report: A Menstruation-Associated Pancreatitis in Perimenopausal Woman

Abstract Background: Hereditary pancreatitis (HP) is a rare type of pancreatitis and patients are characterized with recurrent episodes of acute pancreatitis (AP) without common risk factors, such as gallstone, alcoholic consumption or drugs intake. The specific genes mutations, including PRSS1 and SPINK1, have been shown as the key risk factors for HP. The menstruation-associated pancreatitis is a rare type of HP, and patient always suffers the recurrent acute pancreatitis (RAP) which strictly follows her menstrual cycle. The genes sequencing which aims to recognize the etiology and determine the therapeutics should be taken into consideration for patients suspected of HP.Case presentation: We presented a case of rare HP, whose episodes of recurrence were strictly dependent on her menstrual cycle. PRSS1 and SPINK1 genes sequencing were taken into consideration for menstruation-associated pancreatitis patient. Three conventional mutations (A16V, N29T and N54S) and two novel mutations (L14V and G62A) in the second exon of PRSS1 gene are found to be associated with the cause in our case. Long-term hormone replacement therapy, including deestrogesterone and ethinylestradiol, significantly decreases the recurrence of perimenopausal pancreatitis.Conclusion: We found 2 novel mutations in the second exon of PRSS1 gene and long-term hormone replacement therapy significantly decreased the recurrence of AP. However, the increased risk of breast cancer and endometrial carcinoma need more attention.