Hereditary Pancreatitis

Abstract

A 13-year-old boy with a strong family history of hereditary pancreatitis was found to have a PRSS1 mutation after being tested at age 5 years during his first documented incident of pancreatitis. Since then, a multidisciplinary team has been treating him for the diagnosis of hereditary pancreatitis. His pain episodes increased in severity over the past several months such that the pain began to severely interfere with his daily life. After extensive discussion, a total pancreatectomy with auto islet cell transplant was performed. He is now pain free and does not require any insulin. This leads us to the questions of what is hereditary pancreatitis and how is it diagnosed? What are the management and follow-up strategies needed for these patients? This article addresses these questions and informs the reader about this diagnosis and the importance of having a high index of clinical suspicion.

Total Pancreatectomy with Autologous Islet Cell Transplantation—The Current Indications

“…The long-term results with decreased insulin requirements, decreased pain, and improved QoL are reported also in pediatric patients following TPAIT. There are numerous studies presenting results of TPAIT in children in the worldwide literature [ 1 , 56 , 57 , 101 , 102 , 103 , 104 , 105 , 106 , 107 , 108 , 109 , 110 , 111 ]. One of the largest studies by Sutherland et al [ 84 ] included 409 patients (53 children) and showed a higher rate of postoperative insulin independence in children (55%) compared to adults (25% of adults).…”