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Introduction: Hereditary pancreatitis is a very rare cause of chronic pancreatic inflammation. In recent years the genetic mutations leading to hereditary pancreatitis have been characterized. Patients with hereditary pancreatitis present in childhood and, as adults, are reported to have an extremely high risk of pancreatic cancer. However, the rarity of this disorder has resulted in a gap in clinical knowledge. Therefore, the aims of this analysis are to characterize a large series of patients with hereditary pancreatitis and to establish clinical guidelines.
Methods: Pediatric and adult endoscopic, surgical, radiologic and genetic databases were searched from 1994-2011. Patients with chronic pancreatitis and genetic mutations for PRSS-1 or SPINK-1 as well as those with a significant family history of chronic pancreatitis were included. Patients with chronic pancreatitis due to other causes, idiopathic pancreatitis without a positive family history, and familial pancreatic cancer were excluded. Data were gathered on genetic testing, endoscopic and surgical management as well as the occurrence of pancreatic cancer.
Results: Eighty-six patients were identified, and the mean age at presentation was 17 years. Forty-four (51%) were female. Genetic testing confirmed the diagnosis in 38 families (44%) while 48 patients (56%) had a significant family history. In recent years adult patients were counseled to avoid tobacco and alcohol. Eighty patients (93%) with a median age of 15 years were managed endoscopically with sphincterotomy (69%), stone removal (31%) and/or stenting of pancreatic duct strictures (85%). In recent years endoscopic ultrasound was performed in 13 patients (15%) to screen for cancer. Twenty-nine patients (34%) have undergone 35 operations at a mean age of 19 years. Surgery included 15 drainage procedures (lateral pancreaticojejunostomy-9, cystenterostomy-3, Duval-2, sphincteroplasty-1) and 20 resections (proximal-10, distal-9, total-1). Islet transplantation was performed in the one patient who underwent a total pancreatectomy. While 22 patients (26%) were older than 40 years, only one 67 year old man developed pancreatic cancer and died. The remaining 85 patients are all alive and cancer free.
Conclusions: Many children and young adults with hereditary pancreatitis can be managed initially with endoscopic therapy. When surgery is undertaken, the procedure should be tailored to the pancreatic anatomy and the cancer risk. With aggressive endoscopic and surgical management as well as avoidance of cocarcinogens the incidence of pancreatic cancer is surprisingly low in patients with hereditary pancreatitis.