Menstruation-Associated Acute Pancreatitis in Patients with Hereditary Pancreatitis

Abstract

Two adolescent girls presented with recurrent episodes of menstrual cycle-associated acute pancreatitis and are diagnosed with hereditary pancreatitis, a cause of chronic pancreatitis. Hereditary pancreatitis should remain in the differential diagnosis for teenage girls with catamenial acute pancreatitis and family history of pancreatic disease.Hereditary pancreatitis is one of the risk factors that leads to chronic pancreatitis and is characterized by early onset of disease, typically in childhood. Several genes have been associated with chronic pancreatitis including PRSS1 (gene-encoding cationic trypsinogen), SPINK1 (serine protease inhibitor, Kazal type 1), CFTR (cystic fibrosis), CPA1 (carboxypeptidase A1), and CTRC (chymotrypsin C) genes, and other genes. [1][2][3][4][5][6][7] Hereditary pancreatitis classically has been described secondary to PRSS1 genetic defects, most commonly a pathogenic R122H mutation (c.365G>A), has a variable spectrum of severity and presentation, and is clinically indistinguishable from other forms of acute pancreatitis and chronic pancreatitis. 8 In a multinational cohort of 301 children with acute recurrent pancreatitis and chronic pancreatitis, 17% of individuals with acute recurrent pancreatitis and 46% of children with chronic pancreatitis had a pathogenic PRSS1 mutation. 9 Approximately one-half of the patients with pathogenic PRSS1 mutations progress to chronic pancreatitis by 20 years of age. 8,10 Few triggers are known to be associated with episodes of acute pancreatitis in patients with pathogenic PRSS1 mutations, including alcohol consumption. One case report has previously shown onset of a menstrual cycle triggering episodes of acute pancreatitis in a teenage girl with Hereditary pancreatitis secondary to a pathogenic R122H mutation was reported. 11 A diagnosis of acute pancreatitis can be made according to subspecialty