Hereditary Pancreatitis

Pediatr Ann. 2016 Feb;45(2):e50-3. doi: 10.3928/00904481-20160115-01.

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.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Pain / etiology
  • Abdominal Pain / therapy
  • Adolescent
  • Humans
  • Insulin / therapeutic use
  • Islets of Langerhans Transplantation / methods
  • Male
  • Mutation
  • Pancreatectomy / methods
  • Pancreatitis, Chronic / diagnosis*
  • Pancreatitis, Chronic / genetics
  • Pancreatitis, Chronic / surgery
  • Trypsin / genetics*

Substances

  • Insulin
  • PRSS1 protein, human
  • Trypsin

Supplementary concepts

  • Hereditary pancreatitis