Case Presentation: We present a case of hereditary pancreatitis in the setting of SPINK1 gene mutation (c.101A>G; p.Asn34Ser) with symptom onset at age sixty-six. The patient had no history of alcohol use and remote history of cholecystectomy, however, did have a strong first-degree family history in her brother and sister, who also began to experience recurrent pancreatitis in their sixties. Over the course of the year following diagnosis, the patient experienced multiple prolonged hospital courses for severe, recurrent pancreatitis with complications including pancreatic necrosis, pseudocysts, and abscesses requiring drainage. In this time, she developed pancreatic insufficiency, had progression of her long-standing type 2 diabetes mellitus, and lost close to one hundred pounds.
Discussion: Although relatively rare, hereditary pancreatitis is an important cause of acute, recurrent acute, and chronic pancreatitis. One of the common genetic mutations associated with hereditary pancreatitis is the SPINK1 gene. The SPINK1 gene encodes a potent inhibitor of trypsin activity, and thus mutations have been found to largely increase the likelihood of developing recurrent pancreatitis. We present a case of hereditary pancreatitis secondary to SPINK1 gene mutation that is atypical in age of onset of presentation. The median age of onset is generally in early adulthood, with a mean age of onset around twenty, however our patient presented well into her sixties. Although this mutation is found in up to 17% of patients with pancreatitis, in our patient who had no history of alcohol use, gallstones, hypertriglyceridemia, hypercalcemia, or use of any medications commonly associated with pancreatitis, her pancreatitis was likely associated with the SPINK1 mutation. Her positive family history in two first degree relatives, presenting at a similar age, strongly supports this theory.
Conclusions: It is important to consider hereditary pancreatitis and genetic testing in patients with recurrent pancreatitis who hold a diagnosis of idiopathic pancreatitis. The SPINK1 gene, which prevents premature trypsinogen activation, is one such gene associated with development of pancreatitis when mutated. Although generally a diagnosis in younger patients, genetic causes of pancreatitis should also be considered in older patients when no other etiology can be identified. Identification of presence of such mutations may provide insight into prognosis and risk stratification as these patients carry risk of higher severity of disease and possibly of developing pancreatic carcinoma.