The histopathology of PRSS1 hereditary pancreatitis

Am J Surg Pathol. 2014 Mar;38(3):346-53. doi: 10.1097/PAS.0000000000000164.

Abstract

Hereditary pancreatitis is an autosomal dominant disorder with 80% penetrance and variable expressivity. The vast majority of cases have been linked to mutations within the cationic trypsinogen gene, also referred to as serine protease 1 (PRSS1). Other than inheritance, PRSS1 pancreatitis has been considered clinically and pathologically indistinguishable from other etiologies of chronic pancreatitis. However, to date, the histologic findings of PRSS1 pancreatitis have not been well described. We, therefore, collected pancreatic specimens from 10 PRSS1 patients of various ages and examined their clinicopathologic features. Patients at the time of resection ranged in age from 9 to 66 years (median, 29 y), with a slight female predominance (60%). All patients reported a history of intermittent abdominal pain, with an age of onset ranging from infancy to 21 years of age. Examination of the gross and microscopic findings suggested a sequential pattern of changes with increasing patient age. In pediatric patients (n=4), although in most cases the pancreas was grossly normal, there was microscopic variation in lobular size and shape. Although the central portions of the pancreas displayed parenchymal loss accompanied by loose perilobular and interlobular fibrosis, the periphery was remarkable for replacement by mature adipose tissue. These changes were more developed in younger adults (n=2), in whom fatty replacement seemed to extend from the periphery to the central portions of the pancreas. With older patients (n=4), the pancreas showed marked atrophy and extensive replacement by mature adipose tissue with scattered islets of Langerhans and rare acinar epithelium concentrated near the main pancreatic duct. In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Atrophy
  • Child
  • Disease Progression
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Lipomatosis / enzymology
  • Lipomatosis / genetics
  • Lipomatosis / pathology
  • Male
  • Middle Aged
  • Mutation*
  • Pancreas / enzymology
  • Pancreas / pathology*
  • Pancreas / surgery
  • Pancreatectomy
  • Pancreatitis, Chronic / complications
  • Pancreatitis, Chronic / enzymology
  • Pancreatitis, Chronic / genetics*
  • Pancreatitis, Chronic / pathology*
  • Pancreatitis, Chronic / surgery
  • Phenotype
  • Treatment Outcome
  • Trypsin / genetics*

Substances

  • PRSS1 protein, human
  • Trypsin

Supplementary concepts

  • Hereditary pancreatitis