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 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.
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References
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.
Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. Diagnosis of cystic fibrosis: consensus guidelines from the cystic fibrosis foundation. J Pediatr. 2017;181S:S4–S15.
Pietrangelo A, Torbenson M. Disorders of iron overload. In: Burt A, Ferrell L, Hubscher S. MacSween’s pathology of the liver. Edinburgh: Churchill Livingstone Elsevier; 2017, p. 279–289, chapter 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.
Comfort MW, Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology. 1952;21:54–63.
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.
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.
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.
Klöppel G, Detlefsen S, Feyerabend B. Fibrosis of the pancreas: the initial tissue damage and the resulting pattern. Virchows Arch. 2004;445:1–8.
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.
Singhi AD, Pai RK, Kant JA, Bartholow TL, Zeh HJ, Lee KK, et al. The histopathology of PRSS1 hereditary pancreatitis. Am J Surg Pathol. 2014;38:346–53.
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.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, et al. Familial pancreatic cancer: concept, management and issues. World J Gastroenterol. 2017;23:935–48.
Hong SM, Park JY, Hruban RH, Goggins M. Molecular signatures of pancreatic cancer. Arch Pathol Lab Med. 2011;135:716–27.
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.
Canto MI, Hruban RH, Fishman EK, Kamel IR, Schulick R, Zhang Z, et al. American Cancer of the Pancreas Screening (CAPS) Consortium. Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology. 2012;142:796–804.
Sheel ARG, Harrison S, Sarantitis I, Nicholson JA, Hanna T, Grocock C, et al. Identification of cystic lesions by secondary screening of Familial Pancreatic Cancer (FPC) kindreds is not associated with the stratified risk of cancer. Am J Gastroenterol. 2019;114:155–64.
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.
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.
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, et al. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2020;69:7–17.
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Campbell, F., Verbeke, C.S. (2021). Hereditary Exocrine Disorders. In: Pathology of the Pancreas. Springer, Cham. https://doi.org/10.1007/978-3-030-49848-1_6
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DOI: https://doi.org/10.1007/978-3-030-49848-1_6
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