Advertisement

Hereditary Exocrine Disorders

  • Fiona Campbell
  • Caroline S. Verbeke
Chapter

Abstract

There are a number of inherited disorders that can affect the exocrine and/or endocrine function of the pancreas. These include inborn errors of metabolism such as hyperlipidemia, glycogen storage disorders, or maple syrup urine disease, which can be associated with pancreatitis. The autosomal dominant disorder hereditary chronic pancreatitis is discussed in detail in this chapter, together with cystic fibrosis, which may only present in late adolescence or early adulthood, and hereditary hemochromatosis. There are also a number of inherited syndromes that are associated with an increased risk of pancreatic cancer, which are briefly mentioned. Familial pancreatic cancer is discussed in more detail, particularly with reference to the role of screening in high-risk individuals.

Keywords

Pancreatic Cancer Cystic Fibrosis Chronic Pancreatitis Cystic Fibrosis Transmembrane Conductance Regulator Lynch Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Simon P, Weiss FU, Zimmer KP, Koch HG, Lerch MM. Acute and chronic pancreatitis in patients with inborn errors of metabolism. Pancreatology. 2001;1:448–56.PubMedCrossRefGoogle Scholar
  2. 2.
    Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153:S4–14.PubMedCrossRefGoogle Scholar
  3. 3.
    Paterson AC, Pietrangelo A. Disorders of iron overload. In: Burt A, Portmann B, Ferrell L, editors. MacSween’s pathology of the liver. Edinburgh: Churchill Livingstone Elsevier; 2012. p. 263–75, chapter 5.Google Scholar
  4. 4.
    Lack EE. Cystic fibrosis and selected disorders with pancreatic insufficiency. In: Pathology of the pancreas, gallbladder, extrahepatic biliary tract, and ampullary region. Oxford: Oxford University Press; 2003. p. 63–80, chapter 3.Google Scholar
  5. 5.
    Comfort MW, Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology. 1952;21:54–63.PubMedGoogle Scholar
  6. 6.
    Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996;14:141–5.PubMedCrossRefGoogle Scholar
  7. 7.
    Le Bodic L, Bignon JD, Raguénès O, Mercier B, Georgelin T, Schnee M, et al. The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum Mol Genet. 1996;5:549–54.PubMedCrossRefGoogle Scholar
  8. 8.
    Kereszturi E, Szmola R, Kukor Z, Simon P, Weiss FU, Lerch MM, et al. Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. Hum Mutat. 2009;30:575–82.PubMedCrossRefGoogle Scholar
  9. 9.
    Gaiser S, Daniluk J, Liu Y, Tsou L, Chu J, Lee W, et al. Intracellular activation of trypsinogen in transgenic mice induces acute but not chronic pancreatitis. Gut. 2011;60:1379–88.PubMedCrossRefGoogle Scholar
  10. 10.
    Klöppel G, Detlefsen S, Feyerabend B. Fibrosis of the pancreas: the initial tissue damage and the resulting pattern. Virchows Arch. 2004;445:1–8.PubMedCrossRefGoogle Scholar
  11. 11.
    Felderbauer P, Stricker I, Schnekenburger J, Bulut K, Chromik AM, Belyaev O, et al. Histopathological features of patients with chronic pancreatitis due to mutations in the PRSS1 gene: evaluation of BRAF and KRAS mutations. Digestion. 2008;78:60–5.PubMedCrossRefGoogle Scholar
  12. 12.
    Rebours V, Lévy P, Mosnier JF, Scoazec JY, Soubeyrand MS, Fléjou JF, et al. Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis. Clin Gastroenterol Hepatol. 2010;8:206–12.PubMedCrossRefGoogle Scholar
  13. 13.
    Bartsch DK, Gress TM, Langer P. Familial pancreatic cancer-current knowledge. Nat Rev Gastroenterol Hepatol. 2012;9:445–53.PubMedCrossRefGoogle Scholar
  14. 14.
    Hong SM, Park JY, Hruban RH, Goggins M. Molecular signatures of pancreatic cancer. Arch Pathol Lab Med. 2011;135:716–27.PubMedGoogle Scholar
  15. 15.
    Klein AP, Brune KA, Petersen GM, Goggins M, Tersmette AC, Offerhaus GJ, et al. Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds. Cancer Res. 2004;64:2634–8.PubMedCrossRefGoogle Scholar
  16. 16.
    Canto MI, Hruban RH, Fishman EK, Kamel IR, Schulick R, Zhang Z, et al. Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology. 2012;142:796–804.PubMedCrossRefGoogle Scholar
  17. 17.
    Shi C, Klein AP, Goggins M, Maitra A, Canto M, Ali S, et al. Increased prevalence of precursor lesions in familial pancreatic cancer patients. Clin Cancer Res. 2009;15:7737–43.PubMedCrossRefGoogle Scholar
  18. 18.
    Brune K, Abe T, Canto M, O’Malley L, Klein AP, Maitra A, et al. Multifocal neoplastic precursor lesions associated with lobular atrophy of the pancreas in patients having a strong family history of pancreatic cancer. Am J Surg Pathol. 2006;30:1067–76.PubMedGoogle Scholar
  19. 19.
    Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013;62:339–47.PubMedCrossRefGoogle Scholar

Further Reading

  1. Ooi CY, Dupuis A, Ellis L, Jarvi K, Martin S, Gonska T, et al. Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language? Thorax. 2012;67:618–24.PubMedCrossRefGoogle Scholar
  2. Rebours V, Levy P, Ruszniewski P. An overview of hereditary pancreatitis. Dig Liver Dis. 2012;44:8–15.PubMedCrossRefGoogle Scholar
  3. Solomon S, Whitcomb DC. Genetics of pancreatitis: an update for clinicians and genetic counselors. Curr Gastroenterol Rep. 2012;14:112–7.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag London 2013

Authors and Affiliations

  • Fiona Campbell
    • 1
  • Caroline S. Verbeke
    • 2
  1. 1.Department of PathologyRoyal Liverpool University HospitalLiverpoolUK
  2. 2.Karolinska Institute, Division of PathologyKarolinska University HospitalStockholmSweden

Personalised recommendations