Hereditary pancreatitis: endoscopic and surgical management.

Abstract

INTRODUCTION:

Hereditary pancreatitis is a rare cause of chronic pancreatitis. In recent years, genetic mutations have been characterized. The rarity of this disorder has resulted in a gap in clinical knowledge. The aims were to characterize patients with hereditary pancreatitis and establish clinical guidelines.

METHODS:

Pediatric and adult endoscopic, surgical, radiologic, and genetic databases from 1998 to 2012 were searched. Patients with recurrent acute or chronic pancreatitis and genetic mutation for either PRSS-1, SPINK-1, or CFTR or those who met the family history criteria were included. Patients with pancreatitis due to other causes, without a positive family history, familial pancreatic cancer, or cystic fibrosis, were excluded.

RESULTS:

Eighty-seven patients were identified. Genetic testing confirmed the diagnosis in 54 patients (62 %). Eighty-five patients (98 %) underwent 263 endoscopic procedures including sphincterotomy (72 %), stone removal (49 %), and pancreatic duct stenting (82 %). Twenty-eight patients (32 %) have undergone 37 operations which included 19 resections and 18 drainage procedures. The interval between procedures for recurrent pain was longer for surgery than for endoscopic therapy (9.1 vs. 3.4 years, p < 0.05).

CONCLUSIONS:

Most 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 cancer risk.

• Authors: Eugene P Ceppa, Henry A Pitt, JoAnna L Hunter, Charles M Leys, Nicholas J Zyromski, Frederick J Rescorla, Kumar Sandrasegaran, Evan L Fogel, Lee W McHenry, James L Watkins, Stuart Sherman, Glen A Lehman
• Journal: Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract (J Gastrointest Surg) Vol. 17 Issue 5 Pg. 847-56; discussion 856-7 (May 2013) ISSN: 1873-4626 [Electronic] United States
• PMID: 23435738 (Publication Type: Journal Article)

Chemical References

• CFTR protein, human
• Carrier Proteins
• SPINK1 protein, human
• Cystic Fibrosis Transmembrane Conductance Regulator
• Trypsin Inhibitor, Kazal Pancreatic
• PRSS1 protein, human
• Trypsin

Topics

• Adolescent
• Adult
• Carrier Proteins (genetics)
• Child
• Child, Preschool
• Cholangiopancreatography, Endoscopic Retrograde
• Cystic Fibrosis Transmembrane Conductance Regulator (genetics)
• Drainage
• Endoscopy (methods)
• Endosonography
• Genetic Testing
• Humans
• Infant
• Magnetic Resonance Imaging
• Middle Aged
• Mutation
• Pancreatic Neoplasms (diagnosis)
• Pancreatitis (diagnosis, epidemiology, genetics, surgery)
• Practice Guidelines as Topic
• Recurrence
• Retrospective Studies
• Statistics, Nonparametric
• Stents
• Tomography, X-Ray Computed
• Trypsin (genetics)
• Trypsin Inhibitor, Kazal Pancreatic
• United States (epidemiology)