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Hereditary chronic pancreatitis

Orpha number ORPHA676
Synonym(s) -
Prevalence 1-9 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD-10
  • K86.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 235956004

Summary

Hereditary chronic pancreatitis (HCP) is a very rare form of childhood onset chronic pancreatitis. There are no data available on the incidence and prevalence of HCP or chronic pancreatitis in children. With the exception of an earlier onset and a slower progression the clinical course, the morphological features and laboratory findings of HCP do not differ from those present in patients with alcoholic chronic pancreatitis, which is the commonest form of chronic pancreatitis. The clinical presentation is highly variable and includes chronic abdominal pain, impairment of endocrine and exocrine function of the pancreas, nausea and vomiting, maldigestion, diabetes, pseudocysts, bile duct and duodenal obstruction, and pancreatic cancer. Most patients have mild disease. Mutations in the PRSS1 gene, encoding cationic trypsinogen, play a causative role in chronic pancreatitis. It has been shown that the PRSS1 mutations increase autocatalytic conversion of trypsinogen to active trypsin, and thus probably cause premature, intrapancreatic trypsinogen activation disturbing the intrapancreatic balance of proteases and their inhibitors. Other genes, such as the anionic trypsinogen (PRSS2), the serine protease inhibitor, Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) have been found to be associated with chronic pancreatitis (idiopathic and hereditary). The most commonly detected SPINK1 mutation in chronic pancreatitis patients is N34S. Functional data of N34S SPINK1 indicate that factors other than the N34S mutation may underlie the predisposition to chronic pancreatitis. Diagnostic criteria and treatment of HCP resemble that of chronic pancreatitis of other causes. Genetic testing should only be performed in carefully selected patients by direct DNA sequencing and antenatal diagnosis should not be encouraged. Treatment focuses on pain management, maldigestion, diabetes, pseudocysts, and bile duct and duodenal obstruction. The prognosis of patients with HCP is unpredictable. Pancreatic cancer risk seems to be elevated in HCP patients leading to the recommendation that additional risk factors for chronic pancreatitis should be avoided.

Expert reviewer(s)

  • Dr Hans BÖDEKER
  • Pr Joachim MÖSSNER
  • Dr Jonas ROSENDAHL
  • Dr Niels TEICH

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Detailed information

Emergency guidelines
  • FR (2014,pdf)
Review article
  • EN (2007)
Clinical genetics review
  • EN (2012)
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