Abstract
Gastrointestinal symptoms are common in various systemic disorders. In addition, primary gastrointestinal disorders have extraintestinal manifestations. This chapter is expected to address common systemic diseases that involve the gastrointestinal tract, including vasculitic disorders, collagen vascular diseases, pancreatic diseases and other endocrinopathies, renal diseases, IgG4 related diseases, amyloidosis, etc., as well as describe pertinent extraintestinal manifestations of common gastrointestinal disorders such as celiac disease, inflammatory bowel disease, Whipple’s disease, polyposis syndromes, and various gastrointestinal infections. Their pathogenetic mechanism and pathologies have been discussed in detail. This unique addition in this book is expected to strengthen the reader’s knowledge of this important but neglected aspect of gastrointestinal diseases.
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References
Leffler DA, Green PH, Fasano A. Extraintestinal manifestations of coeliac disease. Nat Rev Gastroenterol Hepatol. 2015;12(10):561–71.
Hernandez L, Green PH. Extraintestinal manifestations of celiac disease. Curr Gastroenterol Rep. 2006;8(5):383–9.
Lucendo AJ, Rodrigo L, Peña AS, editors. Extraintestinal manifestations of celiac disease and associated disorders. Advances in the understanding of gluten related pathology and the evolution of gluten-free foods. Barcelona: OmniaScience; 2015. p. 341–407.
Bilen Ş, et al. Celiac disease presenting with extraintestinal manifestations. J Clin Exp Investig/Klinik ve Deneysel Arastirmalar Dergisi. 2010;1(3).
Jericho H, Guandalini S. Extra-intestinal manifestation of celiac disease in children. Nutrients. 2018;10(6):755.
Laurikka P, et al. Extraintestinal manifestations of celiac disease: early detection for better long-term outcomes. Nutrients. 2018;10(8):1015.
van Rijn JC, et al. Short stature and the probability of coeliac disease, in the absence of gastrointestinal symptoms. Arch Dis Child. 2004;89(9):882–3.
Singh P, et al. Coeliac disease in patients with short stature: a tertiary care centre experience. Natl Med J India. 2015;28(4):176–80.
Kavimandan A, et al. Prevalence of celiac disease in nutritional anemia at a tertiary care center. Indian J Gastroenterol. 2014;33(2):114–8.
Rubio-Tapia A, Murray JA. The liver in celiac disease. Hepatology. 2007;46(5):1650–8.
Freeman HJ. Hepatic manifestations of celiac disease. Clin Exp Gastroenterol. 2010;3:33–9.
Maggiore G, Caprai S. Liver involvement in celiac disease. Indian J Pediatr. 2006;73(9):809–11.
Mounajjed T, et al. The liver in celiac disease: clinical manifestations, histologic features, and response to gluten-free diet in 30 patients. Am J Clin Pathol. 2011;136(1):128–37.
Zali MR, et al. Liver complications in celiac disease. Hepat Mon. 2011;11(5):333–41.
Freeman EB, et al. Gastrointestinal complications of epidermolysis bullosa in children. Br J Dermatol. 2008;158(6):1308–14.
Collin P, et al. Endocrinological disorders and celiac disease. Endocr Rev. 2002;23(4):464–83.
Nurmi R, et al. Celiac disease or positive tissue transglutaminase antibodies in patients undergoing renal biopsies. Dig Liver Dis. 2018;50(1):27–31.
Syrjanen J, Mustonen J, Pasternack A. Hypertriglyceridaemia and hyperuricaemia are risk factors for progression of IgA nephropathy. Nephrol Dial Transplant. 2000;15(1):34–42.
Wijarnpreecha K, et al. Celiac disease and the risk of kidney diseases: a systematic review and meta-analysis. Dig Liver Dis. 2016;48(12):1418–24.
Sahin I, et al. Screening for celiac disease among patients with chronic kidney disease. Ren Fail. 2012;34(5):545–9.
Halma C, Ubels F. Celiac sprue-associated membranous nephropathy. Clin Nephrol. 2007;68(3):197.
Prasad D, et al. Celiac disease associated membranous nephropathy - a rare cause or coincidence? A case report. Cases J. 2009;2:7018.
Gimenez Llort A, et al. Nephrotic syndrome associated with Celiac disease. A report of five cases. Nephron. 2002;92(4):950.
Harbi H, et al. Celiac disease and focal segmental glomerulosclerosis: is it a fortuity finding? World J Nephrol Urol. 2015;4(4):264–6.
Katz SI, et al. Dermatitis herpetiformis: the skin and the gut. Ann Intern Med. 1980;93(6):857–74.
Zone JJ, et al. Identification of the cutaneous basement membrane zone antigen and isolation of antibody in linear immunoglobulin A bullous dermatosis. J Clin Invest. 1990;85(3):812–20.
Abenavoli L, et al. Cutaneous manifestations in celiac disease. World J Gastroenterol. 2006;12(6):843–52.
Zone JJ. Skin manifestations of celiac disease. Gastroenterology. 2005;128(4 Suppl 1):S87–91.
Hadjivassiliou M, Grunewald RA, Davies-Jones GA. Gluten sensitivity as a neurological illness. J Neurol Neurosurg Psychiatry. 2002;72(5):560–3.
Holmes G. Neurological and psychiatric complications in coeliac disease, in Epilepsy and other neurological disorders in coeliac disease. London: John Libby; 1997.
Nikpour S. Neurological manifestations, diagnosis, and treatment of celiac disease: a comprehensive review. Iran J Neurol. 2012;11(2):59–64.
Rosenberg RN. The molecular and genetic basis of neurologic and psychiatric disease. Lippincott Williams & Wilkins; 2008.
Luostarinen L, et al. Neuromuscular and sensory disturbances in patients with well treated coeliac disease. J Neurol Neurosurg Psychiatry. 2003;74(4):490–4.
Roche Herrero MC, et al. The prevalence of headache in a population of patients with coeliac disease. Rev Neurol. 2001;32(4):301–9.
Inaloo S, et al. A comparative study of celiac disease in children with migraine headache and a normal control group. Turk J Gastroenterol. 2011;22(1):32–5.
Chapman R, et al. Increased prevalence of epilepsy in coeliac disease. Br Med J. 1978;2(6132):250.
Garwicz S, Mortensson W. Intracranial calcification mimicking the Sturge-Weber syndrome A consequence of cerebral folic acid deficiency? Pediatr Radiol. 1976;5(1):5–9.
Cheng J, et al. The association between celiac disease, dental enamel defects, and aphthous ulcers in a United States cohort. J Clin Gastroenterol. 2010;44(3):191–4.
Meyer D, et al. Osteoporosis in a North American adult population with celiac disease. Am J Gastroenterol. 2001;96(1):112–9.
Krupa-Kozak U. Pathologic bone alterations in celiac disease: etiology, epidemiology, and treatment. Nutrition. 2014;30(1):16–24.
Bianchi M-L, Bardella MT. Bone in celiac disease. Osteoporos Int. 2008;19(12):1705–16.
Vazquez H, et al. Risk of fractures in celiac disease patients: a cross-sectional, case-control study. Am J Gastroenterol. 2000;95(1):183.
Tersigni C, et al. Celiac disease and reproductive disorders: meta-analysis of epidemiologic associations and potential pathogenic mechanisms. Hum Reprod Update. 2014;20(4):582–93.
Sher KS, Mayberry JF. Female fertility, obstetric and gynaecological history in coeliac disease. Digestion. 1994;55(4):243–6.
Ciacci C, et al. Celiac disease and pregnancy outcome. Obstet Gynecol Surv. 1996;51(11):643–4.
Martinelli P, et al. Coeliac disease and unfavourable outcome of pregnancy. Gut. 2000;46(3):332–5.
Tursi A. Gastrointestinal motility disturbances in celiac disease. J Clin Gastroenterol. 2004;38(8):642–5.
Iovino P, et al. Esophageal impairment in adult celiac disease with steatorrhea. Am J Gastroenterol. 1998;93(8):1243–9.
Lucendo A. Esophageal manifestations of celiac disease. Dis Esophagus. 2011;24(7):470–5.
Lamanda R, Panarese A, De Stefano S. Coeliac disease and gastroesophageal non-erosive reflux: prevalence and effect of gluten free-diet. Dig Liver Dis. 2009;(41):S90.
Cuomo A, et al. Reflux oesophagitis in adult coeliac disease: beneficial effect of a gluten free diet. Gut. 2003;52(4):514–7.
Green PH, et al. An association between microscopic colitis and celiac disease. Clin Gastroenterol Hepatol. 2009;7(11):1210–6.
Stewart M, et al. The association of coeliac disease and microscopic colitis: a large population-based study. Aliment Pharmacol Ther. 2011;33(12):1340–9.
Gamboa I, et al. Acute labyrinthitis and celiac disease in pediatric age: a possible association? Otolaryngology Online J. 2017.
Hashas ASK, et al. The eyes of children with celiac disease. J Am Assoc Pediatr Ophthalmol Strabismus. 2017;21(1):48–51.
Losurdo G, et al. Extra-intestinal manifestations of non-celiac gluten sensitivity: an expanding paradigm. World J Gastroenterol. 2018;24(14):1521.
Volta U, et al. An Italian prospective multicenter survey on patients suspected of having non-celiac gluten sensitivity. BMC Med. 2014;12(1):85.
Carroccio A, et al. Self-reported non-celiac wheat sensitivity in high school students: demographic and clinical characteristics. Nutrients. 2017;9(7):771.
Villanacci V, et al. Mucosal tissue transglutaminase expression in celiac disease. J Cell Mol Med. 2009;13(2):334–40.
Gorgun J, et al. Tissue transglutaminase expression in celiac mucosa: an immunohistochemical study. Virchows Arch. 2009;455(4):363–73.
Drastich P, et al. Celiac disease markers in patients with liver diseases: a single center large scale screening study. World J Gastroenterol: WJG. 2012;18(43):6255.
Das P, et al. Immunohistochemical expression of Antitissue transglutaminase 2 in tissue injuries: an interpretation beyond celiac disease. Appl Immunohistochem Mol Morphol. 2018;26(6):425–30.
Jos J, et al. Immunoelectron-microscopic localization of immunoglobulin A and secretory component in jejunal mucosa from children with coeliac disease. Scand J Immunol. 1979;9(5):441–50.
Lancaster-Smith M, et al. Immunological phenomena in the jejunum and serum after reintroduction of dietary gluten in children with treated coeliac disease. J Clin Pathol. 1976;29(7):592–7.
Korponay-Szabó IR, et al. In vivo targeting of intestinal and extraintestinal transglutaminase 2 by coeliac autoantibodies. Gut. 2004;53(5):641–8.
Salmi TT, et al. Endomysial antibody-negative coeliac disease: clinical characteristics and intestinal autoantibody deposits. Gut. 2006;55(12):1746–53.
Koskinen O, et al. Usefulness of small-bowel mucosal transglutaminase-2 specific autoantibody deposits in the diagnosis and follow-up of celiac disease. J Clin Gastroenterol. 2010;44(7):483–8.
Bernstein CN, et al. The prevalence of extraintestinal diseases in inflammatory bowel disease: a population-based study. Am J Gastroenterol. 2001;96(4):1116–22.
Monsen U, et al. Extracolonic diagnoses in ulcerative colitis: an epidemiological study. Am J Gastroenterol. 1990;85(6):711–6.
Rankin GB, et al. National Cooperative Crohn’s Disease Study: extraintestinal manifestations and perianal complications. Gastroenterology. 1979;77(4 Pt 2):914–20.
Yang SK. How does the epidemiology of inflammatory bowel disease differ between east and west? A Korean perspective. Inflamm Intest Dis. 2017;2(2):95–101.
Greenstein AJ, Janowitz HD, Sachar DB. The extra-intestinal complications of Crohn’s disease and ulcerative colitis: a study of 700 patients. Medicine (Baltimore). 1976;55(5):401–12.
Larsen S, Bendtzen K, Nielsen OH. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management. Ann Med. 2010;42(2):97–114.
Perrett AD, et al. The liver in ulcerative colitis. Q J Med. 1971;40(158):211–38.
Dew MJ, Thompson H, Allan RN. The spectrum of hepatic dysfunction in inflammatory bowel disease. Q J Med. 1979;48(189):113–35.
Rand JA, et al. Ulcerative colitis complicated by amyloidosis. Am J Gastroenterol. 1980;74(2):185–7.
Shorvon PJ. Amyloidosis and inflammatory bowel disease. Am J Dig Dis. 1977;22(3):209–13.
Lapidus A, et al. The prevalence of gallstone disease in a defined cohort of patients with Crohn’s disease. Am J Gastroenterol. 1999;94(5):1261–6.
Chapman RW, et al. Primary sclerosing cholangitis: a review of its clinical features, cholangiography, and hepatic histology. Gut. 1980;21(10):870–7.
Ludwig J. Small-duct primary sclerosing cholangitis. Semin Liver Dis. 1991;11(1):11–7.
Shepherd HA, et al. Ulcerative colitis and persistent liver dysfunction. Q J Med. 1983;52(208):503–13.
Schrumpf E, et al. Hepatobiliary complications of inflammatory bowel disease. Semin Liver Dis. 1988;8(3):201–9.
Yimam KK, Bowlus CL. Diagnosis and classification of primary sclerosing cholangitis. Autoimmun Rev. 2014;13(4-5):445–50.
Carbone M, Neuberger JM. Autoimmune liver disease, autoimmunity and liver transplantation. J Hepatol. 2014;60(1):210–23.
Kandiel A, Fraser AG, Korelitz BI, Brensinger C, Lewis JD. Increased risk of lymphoma among inflammatory bowel disease patients treated with azathioprine and 6-mercaptopurine. Gut. 2005;54(8):1121–5.
Beaugerie L, Brousse N, Bouvier AM, Colombel JF, Lémann M, Cosnes J, Hébuterne X, Cortot A, Bouhnik Y, Gendre JP, Simon T, Maynadié M, Hermine O, Faivre J, Carrat F; CESAME Study Group. Lymphoproliferative disorders in patients receiving thiopurines for inflammatory bowel disease: a prospective observational cohort study. Lancet. 2009;374(9701):1617–25.
Relman DA, et al. Identification of the uncultured bacillus of Whipple’s disease. N Engl J Med. 1992;327(5):293–301.
Baisden BL, et al. Diagnosis of Wihipple disease by immunohistochemical analysis: a sensitive and specific method for the detection of Tropheryma whipplei (the Whipple bacillus) in paraffin-embedded tissue. Am J Clin Pathol. 2002;118(5):742–8.
Raoult D, et al. Cultivation of the bacillus of Whipple’s disease. N Engl J Med. 2000;342(9):620–5.
Raoult D, et al. Tropheryma whipplei in children with gastroenteritis. Emerg Infect Dis. 2010;16(5):776–82.
Fenollar F, et al. Intrafamilial circulation of Tropheryma whipplei, France. Emerg Infect Dis. 2012;18(6):949–55.
Keita AK, et al. Tropheryma whipplei prevalence strongly suggests human transmission in homeless shelters. Int J Infect Dis. 2013;17(1):e67–8.
Keita AK, et al. Tropheryma whipplei: a common bacterium in rural Senegal. PLoS Negl Trop Dis. 2011;5(12):e1403.
Keita AK, Raoult D, Fenollar F. Tropheryma whipplei as a commensal bacterium. Future Microbiol. 2013;8(1):57–71.
Dobbins WO 3rd. Is there an immune deficit in Whipple’s disease? Dig Dis Sci. 1981;26(3):247–52.
Feurle GE, et al. HLA B27 and defects in the T-cell system in Whipple’s disease. Eur J Clin Investig. 1979;9(5):385–9.
Dutly F, Altwegg M. Whipple's disease and “Tropheryma whippelii”. Clin Microbiol Rev. 2001;14(3):561–83.
Harris JK, et al. Molecular identification of bacteria in bronchoalveolar lavage fluid from children with cystic fibrosis. Proc Natl Acad Sci U S A. 2007;104(51):20529–33.
Bousbia S, et al. Tropheryma whipplei in patients with pneumonia. Emerg Infect Dis. 2010;16(2):258–63.
Gautret P, et al. Occurrence of Tropheryma whipplei during diarrhea in Hajj pilgrims: a PCR analysis of paired rectal swabs. Travel Med Infect Dis. 2014;12(5):481–4.
Fenollar F, et al. Tropheryma whipplei bacteremia during fever in rural West Africa. Clin Infect Dis. 2010;51(5):515–21.
Fenollar F, Lagier JC, Raoult D. Tropheryma whipplei and Whipple’s disease. J Inf Secur. 2014;69(2):103–12.
Fenollar F, Puechal X, Raoult D. Whipple’s disease. N Engl J Med. 2007;356(1):55–66.
Lagier JC, et al. Systemic Tropheryma whipplei: clinical presentation of 142 patients with infections diagnosed or confirmed in a reference center. Medicine (Baltimore). 2010;89(5):337–45.
Geissdorfer W, et al. High frequency of Tropheryma whipplei in culture-negative endocarditis. J Clin Microbiol. 2012;50(2):216–22.
Maizel H, Ruffin JM, Dobbins WO 3rd. Whipple’s disease: a review of 19 patients from one hospital and a review of the literature since 1950. 1970. Medicine (Baltimore). 1993;72(5):343–55.
Dobbins WO 3rd. Whipple’s disease. Mayo Clin Proc. 1988;63(6):623–4.
Mahnel R, et al. Immunosuppressive therapy in Whipple’s disease patients is associated with the appearance of gastrointestinal manifestations. Am J Gastroenterol. 2005;100(5):1167–73.
Fleming JL, Wiesner RH, Shorter RG. Whipple’s disease: clinical, biochemical, and histopathologic features and assessment of treatment in 29 patients. Mayo Clin Proc. 1988;63(6):539–51.
Ayoub WT, et al. Bone destruction and ankylosis in Whipple’s disease. J Rheumatol. 1982;9(6):930–1.
LeVine ME, Dobbins WO 3rd. Joint changes in Whipple’s disease. Semin Arthritis Rheum. 1973;3(1):79–93.
James TN, Bulkley BH. Abnormalities of the coronary arteries in Whipple’s disease. Am Heart J. 1983;105(3):481–91.
McAllister HA Jr, Fenoglio JJ Jr. Cardiac involvement in Whipple’s disease. Circulation. 1975;52(1):152–6.
Fenollar F, Lepidi H, Raoult D. Whipple’s endocarditis: review of the literature and comparisons with Q fever, Bartonella infection, and blood culture-positive endocarditis. Clin Infect Dis. 2001;33(8):1309–16.
Iqbal T, et al. Whipple’s disease with constrictive pericarditis: a rare disease with a rare presentation. Can J Cardiol. 2009;25(3):e89–91.
Wendler D, et al. Tropheryma whippelii endocarditis confirmed by polymerase chain reaction. Eur Heart J. 1995;16(3):424–5.
Bostwick DG, et al. Whipple’s disease presenting as aortic insufficiency. N Engl J Med. 1981;305(17):995–8.
Celard M, et al. Polymerase chain reaction analysis for diagnosis of Tropheryma whippelii infective endocarditis in two patients with no previous evidence of Whipple’s disease. Clin Infect Dis. 1999;29(5):1348–9.
Elkins C, Shuman TA, Pirolo JS. Cardiac Whipple’s disease without digestive symptoms. Ann Thorac Surg. 1999;67(1):250–1.
Gubler JG, et al. Whipple endocarditis without overt gastrointestinal disease: report of four cases. Ann Intern Med. 1999;131(2):112–6.
Dobbins WO 3rd. The diagnosis of Whipple’s disease. N Engl J Med. 1995;332(6):390–2.
Fantry GT, James SP. Whipple’s disease. Dig Dis. 1995;13(2):108–18.
Durand DV, et al. Whipple disease. Clinical review of 52 cases. The SNFMI Research Group on Whipple Disease. Societe Nationale Francaise de Medecine Interne. Medicine (Baltimore). 1997;76(3):170–84.
Silbert SW, Parker E, Horenstein S. Whipple’s disease of the central nervous system. Acta Neuropathol. 1976;36(1):31–8.
Disdier P, et al. Chemosis associated with Whipple’s disease. Am J Ophthalmol. 1991;112(2):217–9.
Gillen CD, et al. Extraintestinal lymphoma in association with Whipple’s disease. Gut. 1993;34(11):1627–9.
Nuzum CT, Sandler RS, Paulk HT. Thrombocytosis in Whipple's disease. Gastroenterology. 1981;80(6):1465–7.
Misbah SA, et al. Whipple's disease without malabsorption: new atypical features. QJM. 1997;90(12):765–72.
Estimates of the global, regional, and national morbidity, mortality, and aetiologies of diarrhoea in 195 countries: a systematic analysis for the Global Burden of Disease Study 2016. Lancet Infect Dis. 2018;18(11):1211–28.
Gransden WR, et al. Further evidence associating hemolytic uremic syndrome with infection by Verotoxin-producing Escherichia coli O157:H7. J Infect Dis. 1986;154(3):522–4.
Stein-Zamir C, et al. The changing panorama of bacterial enteric infections. Epidemiol Infect. 2009;137(11):1531–7.
Caldwell GR, et al. Shigella dysenteriae type 1 enterocolitis. Aust NZ J Med. 1986;16(3):405–7.
Mao Y, Zhu C, Boedeker EC. Foodborne enteric infections. Curr Opin Gastroenterol. 2003;19(1):11–22.
Pitout JD, Church DL. Emerging gram-negative enteric infections. Clin Lab Med. 2004;24(3):605–26, vi.
Altekruse SF, et al. Campylobacter jejuni – an emerging foodborne pathogen. Emerg Infect Dis. 1999;5(1):28–35.
Pitkanen T, et al. Campylobacter enteritis in 188 hospitalized patients. Arch Intern Med. 1983;143(2):215–9.
Delans RJ, et al. Hemolytic uremic syndrome after Campylobacter-induced diarrhea in an adult. Arch Intern Med. 1984;144(5):1074–6.
Gravina AG, Zagari RM, De Musis C, Romano L, Loguercio C, Romano M. Helicobacter pylori and extragastric diseases: a review. World J Gastroenterol. 2018;24(29):3204.
Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol. 2001;8(4):319–27.
Schreibman IR, et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100(2):476–90.
Rustgi AK. Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med. 1994;331(25):1694–702.
Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin N Am. 2002;31(4):1107–31.
Vasovcak P, et al. A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis. Eur J Gastroenterol Hepatol. 2007;19(6):513–7.
Salem OS, Steck WD. Cowden’s disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature. J Am Acad Dermatol. 1983;8(5):686–96.
DiLiberti JH, Weleber RG, Budden S. Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations. Am J Med Genet. 1983;15(3):491–5.
Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol. 1986;10(12):871–87.
Marsh DJ, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999;8(8):1461–72.
Hobert JA, Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med. 2009;11(10):687–94.
Utsunomiya J, et al. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J. 1975;136(2):71–82.
Sommerhaug RG, Mason T. Peutz-Jeghers syndrome and ureteral polyposis. JAMA. 1970;211(1):120–2.
Jaeger E, et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet. 2012;44(6):699–703.
Novelli M. The pathology of hereditary polyposis syndromes. Histopathology. 2015;66(1):78–87.
Giardiello FM, et al. Nasopharyngeal angiofibroma in patients with familial adenomatous polyposis. Gastroenterology. 1993;105(5):1550–2.
Valanzano R, et al. Genetic evidence that juvenile nasopharyngeal angiofibroma is an integral FAP tumour. Gut. 2005;54(7):1046–7.
Cankaya AB, et al. Oral and maxillofacial considerations in Gardner’s Syndrome. Int J Med Sci. 2012;9(2):137–41.
Rosty C, et al. Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics. Am J Surg Pathol. 2012;36(6):876–82.
Kalady MF, et al. Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. Dis Colon Rectum. 2011;54(2):164–70.
Abrams HL, Spiro R, Goldstein N. Metastases in carcinoma; analysis of 1000 autopsied cases. Cancer. 1950;3(1):74–85.
Ricaniadis N, et al. Gastrointestinal metastases from malignant melanoma. Surg Oncol. 1995;4(2):105–10.
Garwood RA, et al. A case and review of bowel perforation secondary to metastatic lung cancer. Am Surg. 2005;71(2):110–6.
Goldstein HM, Beydoun MT, Dodd GD. Radiologic spectrum of melanoma metastatic to the gastrointestinal tract. AJR Am J Roentgenol. 1977;129(4):605–12.
Morris AD, et al. Effect of anti-inflammatory drug administration in patients with rheumatoid arthritis. Scand J Gastroenterol Suppl. 1981;67:131–5.
Wolfe MM, Lichtenstein DR, Singh G. Gastrointestinal toxicity of nonsteroidal antiinflammatory drugs.[see comment][erratum appears in N Engl J Med 1999 Aug 12;341(7):548]. N Engl J Med. 1999;340(24):1888–99.
Steen VD, Medsger TA Jr. Severe organ involvement in systemic sclerosis with diffuse scleroderma. Arthritis Rheum. 2000;43(11):2437–44.
Khanlou H, et al. Jejunal telangiectasias as a cause of massive bleeding in a patient with scleroderma. Rev Rhum Engl Ed. 1999;66(2):119–21.
Lock G, et al. Association of autonomic nervous dysfunction and esophageal dysmotility in systemic sclerosis. J Rheumatol. 1998;25(7):1330–5.
Reynolds JC. Immune-mediated enteric neuron dysfunction in scleroderma. [comment]. J Lab Clin Med. 1999;133(6):523–4.
Cohen S. The gastrointestinal manifestations of scleroderma: pathogenesis and management. Gastroenterology. 1980;79(1):155–66.
Duchini A, Sessoms SL. Gastrointestinal hemorrhage in patients with systemic sclerosis and CREST syndrome. Am J Gastroenterol. 1998;93(9):1453–6.
Domsic R, et al. Gastrointestinal manifestations of systemic sclerosis. Dig Dis Sci. 2008;53(5):1163–74.
Ebert EC, Ebert EC. Esophageal disease in scleroderma. J Clin Gastroenterol. 2006;40(9):769–75.
Zamost BJ, et al. Esophagitis in scleroderma. Prevalence and risk factors. Gastroenterology. 1987;92(2):421–8.
Segel MC, et al. Systemic sclerosis (scleroderma) and esophageal adenocarcinoma: Is increased patient screening necessary? Gastroenterology. 1985;89(3):485–8.
Ebert EC, Ebert EC. Gastric and enteric involvement in progressive systemic sclerosis. J Clin Gastroenterol. 2008;42(1):5–12.
Marguerie C, et al. Malabsorption caused by coeliac disease in patients who have scleroderma.[see comment]. Br J Rheumatol. 1995;34(9):858–61.
Shindo K, et al. Deconjugation ability of bacteria isolated from the jejunal fluid of patients with progressive systemic sclerosis and its gastric pH. Hepato-Gastroenterology. 1998;45(23):1643–50.
Rose S, Young MA, Reynolds JC. Gastrointestinal manifestations of scleroderma. Gastroenterol Clin N Am. 1998;27(3):563–94.
Lock G, et al. Gastrointestinal manifestations of progressive systemic sclerosis. Am J Gastroenterol. 1997;92(5):763–71.
Ebert EC, Ruggiero FM, Seibold JR. Intestinal perforation. A common complication of scleroderma. Dig Dis Sci. 1997;42(3):549–53.
Rohrmann CA Jr, et al. Radiologic and histologic differentiation of neuromuscular disorders of the gastrointestinal tract: visceral myopathies, visceral neuropathies, and progressive systemic sclerosis. AJR Am J Roentgenol. 1984;143(5):933–41.
Cerinic MM, et al. The nervous system in systemic sclerosis (scleroderma). Clinical features and pathogenetic mechanisms. Rheum Dis Clin N Am. 1996;22(4):879–92.
D’Angelo WA, et al. Pathologic observations in systemic sclerosis (scleroderma). A study of fifty-eight autopsy cases and fifty-eight matched controls. Am J Med. 1969;46(3):428–40.
Meyers AR. Progressive systemic sclerosis: gastrointestinal involvement. Clin Rheum Dis. 1979;5:115–29.
Peachey RD, Creamer B, Pierce JW. Sclerodermatous involvement of the stomach and the small and large bowel. Gut. 1969;10(4):285–92.
Fraback RC, et al. Sigmoid volvulus in two patients with progressive systemic sclerosis. J Rheumatol. 1978;5(2):195–8.
Roberts CG, et al. A case-control study of the pathology of oesophageal disease in systemic sclerosis (scleroderma). Gut. 2006;55(12):1697–703.
Meszaros WT. The colon in systemic sclerosis (scleroderma). Am J Roentgenol Radium Ther Nucl Med. 1959;82:100–2.
Schneider A, Merikhi A, Frank BB. Autoimmune disorders: gastrointestinal manifestations and endoscopic findings. Gastrointest Endosc Clin N Am. 2006;16(1):133–51.
Shamberger RC, Crawford JL, Kirkham SE. Progressive systemic sclerosis resulting in megacolon. A case report. JAMA. 1983;250(8):1063–5.
Regan PT, Weiland LH, Geall MG. Scleroderma and intestinal perforation. Am J Gastroenterol. 1977;68(6):566–71.
Eshraghi N, et al. Adult-onset dermatomyositis with severe gastrointestinal manifestations: case report and review of the literature. Surgery. 1998;123(3):356–8.
Hendel L, et al. Esophageal candidosis in progressive systemic sclerosis: occurrence, significance, and treatment with fluconazole. Scand J Gastroenterol. 1988;23(10):1182–6.
Rosson RS, Yesner R. Peroral duodenal biopsy in progressive systemic sclerosis. N Engl J Med. 1965;272:391–4.
Cobden I, et al. Small intestinal structure and passive permeability in systemic sclerosis. Gut. 1980;21(4):293–8.
Ortega-Hernandez OD, Shoenfeld Y. Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment. Best Pract Res Clin Rheumatol. 2012;26(1):61–72.
Schneider RE, Dobbins WO 3rd. Suction biopsy of the rectal mucosa for diagnosis of arteritis in rheumatoid arthritis and related diseases. Ann Intern Med. 1968;68(3):561–8.
Raskin JB. Gastrointestinal effects of nonsteroidal anti-inflammatory therapy. Am J Med. 1999;106(5B):3S–12S.
Voutilainen M, et al. Nonsteroidal anti-inflammatory drug-associated upper gastrointestinal lesions in rheumatoid arthritis patients. Relationships to gastric histology, Helicobacter pylori infection, and other risk factors for peptic ulcer. Scand J Gastroenterol. 1998;33(8):811–6.
Cheatum DE, et al. An endoscopic study of gastroduodenal lesions induced by nonsteroidal anti-inflammatory drugs. Clin Ther. 1999;21(6):992–1003.
Teodorescu V, et al. Gold-induced colitis: a case report and review of the literature. Mt Sinai J Med. 1993;60(3):238–41.
Evron E, et al. Correlation between gold-induced enterocolitis and the presence of the HLA-DRB1*0404 allele. Arthritis Rheum. 1995;38(6):755–9.
Kleckner FS. Dermatomyositis and its manifestations in the gastrointestinal tract. Am J Gastroenterol. 1970;53(2):141–6.
Jennette JC, et al. 2012 revised international Chapel Hill consensus conference nomenclature of vasculitides. Arthritis Rheum. 2013;65(1):1–11.
Pagnoux C, et al. Presentation and outcome of gastrointestinal involvement in systemic necrotizing vasculitides. Medicine. 2005;84(2):115–28.
Langford CA. 15. Vasculitis. J Allergy Clin Immunol. 2003;111(2):S602–12.
Camilleri M, et al. Gastrointestinal manifestations of systemic vasculitis. Q J Med. 1983;52(206):141–9.
Scola CJ, Li C, Upchurch KS. Mesenteric involvement in giant cell arteritis. An underrecognized complication? Analysis of a case series with clinicoanatomic correlation. Medicine (Baltimore). 2008;87(1):45–51.
Srigley JR, Gardiner GW. Giant cell arteritis with small bowel infarction. A case report and review of the literature. Am J Gastroenterol. 1980;73(2):157–61.
Kurata A, et al. Multiple ulcers with perforation of the small intestine in buerger’s disease: a case report. Gastroenterology. 2003;125(3):911–6.
Olin JW. Thromboangiitis obliterans: 110 years old and little progress made. J Am Heart Assoc. 2018;7(23):e011214.
Edo N, et al. Thromboangiitis obliterans with multiple large vessel involvement: case report and analysis of immunophenotypes. Cardiovasc Pathol. 2010;19(1):59–62.
Sachs IL, Klima T, Frankel NB. Thromboangiitis obliterans of the transverse colon. JAMA. 1977;238(4):336–7.
Herrington JL Jr, Grossman LA. Surgical lesions of the small and large intestine resulting from Buerger’s disease. Ann Surg. 1968;168(6):1079–87.
Barron KS, et al. Report of the National Institutes of Health Workshop on Kawasaki Disease. J Rheumatol. 1999;26(1):170–90.
Colomba C, et al. Intestinal Involvement in Kawasaki Disease. J Pediatr. 2018;202:186–93.
Fujiwara H, Hamashima Y. Pathology of the heart in Kawasaki disease. Pediatrics. 1978;61(1):100–7.
Sonmez HE, et al. Polyarteritis nodosa: lessons from 25 years of experience. Clin Exp Rheumatol. 2018.
Bassel K, Harford W. Gastrointestinal manifestations of collagen-vascular diseases. Semin Gastrointest Dis. 1995;6(4):228–40.
Cartin-Ceba R, Peikert T, Specks U. Pathogenesis of ANCA-associated vasculitis. Curr Rheumatol Rep. 2012;14(6):481–93.
Mouthon L, Dunogue B, Guillevin L. Diagnosis and classification of eosinophilic granulomatosis with polyangiitis (formerly named Churg-Strauss syndrome). J Autoimmun. 2014;48-49:99–103.
Churg J, Strauss L. Allergic granulomatosis, allergic angiitis, and periarteritis nodosa. Am J Pathol. 1951;27(2):277–301.
Franco DL, et al. Eosinophilic granulomatosis with polyangiitis and diffuse gastrointestinal involvement. Case Rep Gastroenterol. 2014;8(3):329–36.
Shimamoto C, et al. Churg-Strauss syndrome (allergic granulomatous angiitis) with peculiar multiple colonic ulcers. Am J Gastroenterol. 1990;85(3):316–9.
Ohwada S, et al. Necrotizing granulomatous vasculitis of transverse colon and gallbladder. Hepato-Gastroenterology. 1997;44(16):1090–4.
Lhote F, Cohen P, Guillevin L. Polyarteritis nodosa, microscopic polyangiitis and Churg-Strauss syndrome. Lupus. 1998;7(4):238–58.
Brogan P, Eleftheriou D, Dillon M. Small vessel vasculitis. Pediatr Nephrol. 2010;25(6):1025–35.
Louie CY, et al. Histologic features of gastrointestinal tract biopsies in IgA vasculitis (Henoch-Schonlein Purpura). Am J Surg Pathol. 2018;42(4):529–33.
Kagimoto S. Duodenal findings on ultrasound in children with Schonlein-Henoch purpura and gastrointestinal symptoms. J Pediatr Gastroenterol Nutr. 1993;16(2):178–82.
Powers BJ, et al. Leukocytoclastic vasculitis, not associated with Henoch-Schonlein purpura, causing recurrent massive painless gastrointestinal hemorrhage. Am J Gastroenterol. 1992;87(9):1191–3.
Morichau-Beauchant M, et al. Jejunal IgA and C3 deposition in adult Henoch-Schonlein purpura with severe intestinal manifestations. Gastroenterology. 1982;82(6):1438–42.
Babian M, Nasef S, Soloway G. Gastrointestinal infarction as a manifestation of rheumatoid vasculitis. Am J Gastroenterol. 1998;93(1):119–20.
Ebert EC, Hagspiel KD. Gastrointestinal and hepatic manifestations of systemic lupus erythematosus. J Clin Gastroenterol. 2011;45(5):436–41.
Turner HE, et al. Lupus or lupoid hepatitis with mesenteric vasculitis. Br J Rheumatol. 1996;35(12):1309–11.
Jones MP, Pandak WM, Moxley GF. Chronic diarrhea in essential mixed cryoglobulinemia: a manifestation of visceral vasculitis? Am J Gastroenterol. 1991;86(4):522–4.
Reissman P, et al. Gangrenous ischemic colitis of the rectum: a rare complication of systemic lupus erythematosus. Am J Gastroenterol. 1994;89(12):2234–6.
Marshall JB, et al. Gastrointestinal manifestations of mixed connective tissue disease. Gastroenterology. 1990;98(5 Pt 1):1232–8.
Saraga EP, Costa J. Idiopathic entero-colic lymphocytic phlebitis. A cause of ischemic intestinal necrosis. Am J Surg Pathol. 1989;13(4):303–8.
Saraga E, Bouzourenne H. Enterocolic (lymphocytic) phlebitis: a rare cause of intestinal ischemic necrosis: a series of six patients and review of the literature. Am J Surg Pathol. 2000;24(6):824–9.
Flaherty MJ, Lie JT, Haggitt RC. Mesenteric inflammatory veno-occlusive disease. A seldom recognized cause of intestinal ischemia. Am J Surg Pathol. 1994;18(8):779–84.
Lie JT. Mesenteric inflammatory veno-occlusive disease (MIVOD): an emerging and unsuspected cause of digestive tract ischemia. Vasa. 1997;26(2):91–6.
Yantiss RK, et al. Idiopathic myointimal hyperplasia of mesenteric veins: an uncommon cause of ischemic colitis with distinct mucosal features. Am J Surg Pathol. 2017;41(12):1657–65.
Hatemi I, Hatemi G, Celik AF. Gastrointestinal Involvement in Behcet Disease. Rheum Dis Clin N Am. 2018;44(1):45–64.
Emmi G, et al. Vascular Behcet’s syndrome: an update. Intern Emerg Med. 2018.
Hatemi I, et al. Characteristics, treatment, and long-term outcome of gastrointestinal involvement in Behcet’s syndrome: a strobe-compliant observational study from a dedicated multidisciplinary center. Medicine (Baltimore). 2016;95(16):e3348.
Scheinfeld N. Malignant atrophic papulosis. Clin Exp Dermatol. 2007;32(5):483–7.
McFarland HR, et al. Papulosis atrophicans maligna (Köhlmeier-Degos disease): a disseminated occlusive vasculopathy. Ann Neurol. 1978;3(5):388–92.
Slavin RE, Gonzalez-Vitale JC. Segmental mediolytic arteritis: a clinical pathologic study. Lab Investig. 1976;35(1):23–9.
Slavin RE, Cafferty L, Cartwright J Jr. Segmental mediolytic arteritis. A clinicopathologic and ultrastructural study of two cases. Am J Surg Pathol. 1989;13(7):558–68.
Naidu SG, et al. Segmental arterial mediolysis: abdominal imaging of and disease course in 111 patients. AJR Am J Roentgenol. 2018;210(4):899–905.
Fleming S, et al. Have you seen SAM? EJVES Short Rep. 2018;38:8–11.
Bytzer P, et al. Prevalence of gastrointestinal symptoms associated with diabetes mellitus: a population-based survey of 15,000 adults. Arch Intern Med. 2001;161(16):1989–96.
Ebert EC, Ebert EC. Gastrointestinal complications of diabetes mellitus. Dis Mon. 2005;51(12):620–63.
Shakil A, et al. Gastrointestinal complications of diabetes. [summary for patients in Am Fam Physician. 2008 Jun 15;77(12):1703-4; PMID: 18619080]. Am Fam Physician. 2008;77(12):1697–702.
Hasler WL. Type 1 diabetes and gastroparesis: diagnosis and treatment. Curr Gastroenterol Rep. 2007;9(4):261–9.
Glouberman S. Diabetes mellitus and the gastrointestinal tract. Part II: small and large intestine and gallbladder. Ariz Med. 1977;34(3):174–5.
Virally-Monod M, et al. Chronic diarrhoea and diabetes mellitus: prevalence of small intestinal bacterial overgrowth. Diabetes Metab. 1998;24(6):530–6.
Ordog T, et al. Remodeling of networks of interstitial cells of Cajal in a murine model of diabetic gastroparesis. Diabetes. 2000;49(10):1731–9.
Katz LA, Spiro HM. Gastrointestinal manifestations of diabetes. N Engl J Med. 1966;275(24):1350–61.
Paley RG, Mitchell W, Watkinson G. Terminal colonic dilatation following intractable diarrhea in a diabetic. Gastroenterology. 1961;41:401–7.
Schmidt H, et al. Ultrastructure of diabetic autonomic neuropathy of the gastrointestinal tract. Klin Wochenschr. 1984;62(9):399–405.
Duchen LW, et al. Pathology of autonomic neuropathy in diabetes mellitus. Ann Intern Med. 1980;92(2 Pt 2):301–3.
Verner JV, Morrison AB. Endocrine pancreatic islet disease with diarrhea. Report of a case due to diffuse hyperplasia of nonbeta islet tissue with a review of 54 additional cases. Arch Intern Med. 1974;133(3):492–9.
Tomita T, et al. Pancreatic polypeptide cell hyperplasia with and without watery diarrhea syndrome. J Surg Oncol. 1980;14(1):11–20.
Lehy T, Roucayrol AM, Mignon M. Histomorphological characteristics of gastric mucosa in patients with Zollinger-Ellison syndrome or autoimmune gastric atrophy: role of gastrin and atrophying gastritis. Microsc Res Tech. 2000;48(6):327–38.
Ghaferi AA, et al. Pancreatic VIPomas: subject review and one institutional experience. J Gastrointest Surg. 2008;12(2):382–93.
Long RG, et al. Clinicopathological study of pancreatic and neural VIPomas. Gut. 1979;20:A934.
Shulman DI, et al. Ganglioneuromatosis involving the small intestine and pancreas of a child and causing hypersecretion of vasoactive intestinal polypeptide. J Pediatr Gastroenterol Nutr. 1996;22(2):212–8.
Krejs GJ, et al. Somatostatinoma syndrome. Biochemical, morphologic and clinical features. N Engl J Med. 1979;301(6):285–92.
Garbrecht N, et al. Somatostatin-producing neuroendocrine tumors of the duodenum and pancreas: incidence, types, biological behavior, association with inherited syndromes, and functional activity. Endocr Relat Cancer. 2008;15(1):229–41.
Mallinson CN, et al. A glucagonoma syndrome. Lancet. 1974;2(7871):1–5.
Jones B, et al. Villous hypertrophy of the small bowel in a patient with glucagonoma. J Comput Assist Tomogr. 1983;7(2):334–7.
Stevens FM, et al. Glucagonoma syndrome demonstrating giant duodenal villi. Gut. 1984;25(7):784–91.
Bansal A, Gupta P, Singh H, Samanta J, Mandavdhare H, Sharma V, Sinha SK, Dutta U, Kochhar R. Gastrointestinal complications in acute and chronic pancreatitis. JGH Open. 2019;3(6):450–5.
Ramsey ML, Conwell DL, Hart PA. Complications of chronic pancreatitis. Dig Dis Sci. 2017;62:1745–50.
McGrath C, Tsang A, Nithianandan H, Nguyen E, Bauer P, Dennis K. Malignant gastric outlet obstruction from pancreatic cancer. Case Rep Gastroenterol. 2017;11(3):511–5.
Sharma S, et al. Colorectal manifestations of endocrine disease. Dis Colon Rectum. 1995;38(3):318–23.
Deen KI, Seneviratne SL, de Silva HJ. Anorectal physiology and transit in patients with disorders of thyroid metabolism. J Gastroenterol Hepatol. 1999;14(4):384–7.
Lew EA, et al. Adenocarcinoma of the colon with neuroendocrine features and secretory diarrhea. Am J Gastroenterol. 1999;94(6):1692–4.
Matosin-Matekalo M, et al. Glucose and thyroid hormone co-regulate the expression of the intestinal fructose transporter GLUT5. Biochem J. 1999;339(Pt 2):233–9.
Papa A, et al. Effects of propylthiouracil on intestinal transit time and symptoms in hyperthyroid patients. Hepato-Gastroenterology. 1997;44(14):426–9.
Maser C, et al. Gastrointestinal manifestations of endocrine disease. World J Gastroenterol. 2006;12(20):3174–9.
Miller LJ, Gorman CA, Go VL. Gut-thyroid interrelationships. Gastroenterology. 1978;75(5):901–11.
Marks P, Anderson J, Vincent R. Thyrotoxic myopathy presenting as dysphagia. Postgrad Med J. 1980;56(659):669–70.
Buchholz DW. Neurogenic dysphagia: what is the cause when the cause is not obvious? Dysphagia. 1994;9(4):245–55.
Eastwood GL, et al. Reversal of lower esophageal sphincter hypotension and esophageal aperistalsis after treatment for hypothyroidism. J Clin Gastroenterol. 1982;4(4):307–10.
Borrie MJ, et al. Myxedema megacolon after external neck irradiation. J Am Geriatr Soc. 1983;31(4):228–30.
Patel R, Hughes RW Jr. An unusual case of myxedema megacolon with features of ischemic and pseudomembranous colitis. Mayo Clin Proc. 1992;67(4):369–72.
Bastenie PA. Paralytic ileus in severe hypothyroidism. Lancet. 1946;1:413–6.
Douglass RC, Jacobson SD. Pathologic changes in adult myxedema: survey of 10 necropsies. J Clin Endocrinol Metab. 1957;17(11):1354–64.
Tysk C, et al. Diagnosis and management of microscopic colitis. World J Gastroenterol. 2008;14(28):7280–8.
Hanna FW, et al. Regulatory peptides and other neuroendocrine markers in medullary carcinoma of the thyroid. J Endocrinol. 1997;152(2):275–81.
Guyetant S, et al. Medullary thyroid microcarcinoma: a clinicopathologic retrospective study of 38 patients with no prior familial disease. Hum Pathol. 1999;30(8):957–63.
St. Goar, W.T., Gastrointestinal symptoms as a clue to the diagnosis of primary hyperparathyrodism: a review of 45 cases. Ann Intern Med, 1957. 46: p. 102-118.
Silverberg SJ, et al. The diagnosis and management of asymptomatic primary hyperparathyroidism. Nat Clin Pract Endocrinol Metab. 2006;2(9):494–503.
Eversman JJ, Farmer RG, Brown CH. Gastrointestinal manifestations of hyperparathyroidism. Arch Intern Med. 1967;119(6):605–9.
Gardner EC, Hersh T. Primary hyperparathyroidism and the gastrointestinal tract. South Med J. 1981;74:197–9.
Palmer FJ. The clinical manifestations of primary hyperparathyroidism. Compr Ther. 1983;9(2):56–64.
Clarkson B, et al. Clinical and metabolic study of a patient with malabsorption and hypoparathyroidism. Metabolism. 1960;9:1093–106.
Peracchi M, Bardella MT, Conte D. Late-onset idiopathic hypoparathyroidism as a cause of diarrhoea. Eur J Gastroenterol Hepatol. 1998;10(2):163–5.
Landauer N, et al. A rare but endocrine cause of chronic diarrhea. Am J Gastroenterol. 2003;98(1):227–8.
McBrien DJ, Jones RV, Creamer B. Steatorrhea in Addison's disease. Lancet. 1963;1:25–6.
Tobin MV, et al. Gastrointestinal manifestations of Addison’s disease. Am J Gastroenterol. 1989;84(10):1302–5.
O’Leary C, et al. Coeliac disease and autoimmune Addison’s disease: a clinical pitfall. QJM. 2002;95(2):79–82.
Betterle C, et al. Celiac disease in North Italian patients with autoimmune Addison’s disease. Eur J Endocrinol. 2006;154(2):275–9.
Myhre AG, et al. High frequency of coeliac disease among patients with autoimmune adrenocortical failure. Scand J Gastroenterol. 2003;38(5):511–5.
Naylor EW, Gardner EJ. Adrenal adenomas in a patient with Gardner’s syndrome. Clin Genet. 1981;20(1):67–73.
Wheeler MH, Curley IR, Williams ED. The association of neurofibromatosis, pheochromocytoma, and somatostatin-rich duodenal carcinoid tumor. Surgery. 1986;100(6):1163–9.
Dayal Y, et al. Duodenal carcinoids in patients with and without neurofibromatosis. A comparative study. Am J Surg Pathol. 1986;10(5):348–57.
Mullen JP, et al. Pathogenesis and pharmacologic management of pseudo-obstruction of the bowel in pheochromocytoma. Am J Med Sci. 1985;290(4):155–8.
Khafagi FA, Lloyd HM, Gough IR. Intestinal pseudo-obstruction in pheochromocytoma. Aust N Z J Med. 1987;17(2):246–8.
Nigawara K, et al. A case of recurrent malignant pheochromocytoma complicated by watery diarrhea, hypokalemia, achlorhydria syndrome. J Clin Endocrinol Metab. 1987;65(5):1053–6.
Wu HW, et al. Pheochromocytoma presented as intestinal pseudo-obstruction and hyperamylasemia. Am J Emerg Med. 2008;26(8):971 e1–4.
Szmulowicz UM, et al. Ischemic colitis: an uncommon manifestation of pheochromocytoma. Am Surg. 2007;73(4):400–3.
Smith SL, et al. Pheochromocytoma producing vasoactive intestinal peptide. Mayo Clin Proc. 2002;77(1):97–100.
Ikuta S, et al. Watery diarrhea, hypokalemia and achlorhydria syndrome due to an adrenal pheochromocytoma. World J Gastroenterol. 2007;13(34):4649–52.
Vazquez-Quintana E, et al. Pheocromocytoma and gastrointestinal bleeding. Am Surg. 1995;61(11):937–9.
Ali RA, et al. Gastroesophageal reflux disease in pregnancy. Best Pract Res Clin Gastroenterol. 2007;21(5):793–806.
Cullen G, et al. Constipation and pregnancy. Best Pract Res Clin Gastroenterol. 2007;21(5):807–18.
Keller J, et al. The spectrum and treatment of gastrointestinal disorders during pregnancy. Nat Clin Pract Gastroenterol Hepatol. 2008;5(8):430–43.
Ismail SK, et al. Review on hyperemesis gravidarum. Best Pract Res Clin Gastroenterol. 2007;21(5):755–69.
Popovic V, et al. Increased incidence of neoplasia in patients with pituitary adenomas. 1998.
Colao A, et al. The association of fasting insulin concentrations and colonic neoplasms in acromegaly: a colonoscopy-based study in 210 patients. J Clin Endocrinol Metab. 2007;92(10):3854–60.
Resmini E, et al. Computed Tomography Colonography in Acromegaly. J Clin Endocrinol Metab. 2009;94(1):218–22.
Perniola R. Twenty Years of AIRE. Front Immunol. 2018;9:98.
Ohsie S, et al. A paucity of colonic enteroendocrine and/or enterochromaffin cells characterizes a subset of patients with chronic unexplained diarrhea/malabsorption. Hum Pathol. 2009;40(7):1006–14.
Cortina G, et al. Enteroendocrine cell dysgenesis and malabsorption, a histopathologic and immunohistochemical characterization. Hum Pathol. 2007;38(4):570–80.
Peterson P, Peltonen L. Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. J Autoimmun. 2005;25(Suppl):49–55.
Tan QKG, Louie RJ, Sleasman JW, IPEX Syndrome, in GeneReviews((R)), Adam MP, et al., editors. University of Washington, Seattle GeneReviews is a registered trademark of the University of Washington, Seattle. Seattle (WA): All rights reserved; 1993.
Giusti F, et al. Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database. Endocrine. 2017;58(2):349–59.
Moline J, Eng C. Multiple endocrine neoplasia type 2: an overview. Genet Med. 2011;13(9):755–64.
DeLellis RA, et al. Multiple endocrine neoplasia (MEN) syndromes: cellular origins and interrelationships. Int Rev Exp Pathol. 1986;28:163–215.
Grobmyer SR, et al. Colonic manifestations of multiple endocrine neoplasia type 2B: report of four cases. Dis Colon Rectum. 1999;42(9):1216–9.
Cope R, Schleinitz PF. Multiple endocrine neoplasia, type 2b, as a cause of megacolon. Am J Gastroenterol. 1983;78(12):802–5.
Carney AJ, Hayles AB. Alimentary tract manifestations of multiple endocrine neoplasia, type 2b. Mayo Clin Proc. 1977;52:543–8.
Snover DC, Weigent CE, Sumner HW. Diffuse mucosal ganglioneuromatosis of the colon associated with adenocarcinoma. Am J Clin Pathol. 1981;75(2):225–9.
Weidner N, Flanders DJ, Mitros FA. Mucosal ganglioneuromatosis associated with multiple colonic polyps. Am J Surg Pathol. 1984;8(10):779–86.
Perkins JT, Blackstone MO, Riddell RH. Adenomatous polyposis coli and multiple endocrine neoplasia type 2b. A pathogenetic relationship. Cancer. 1985;55(2):375–81.
Lewis CE, Yeh MW. Inherited endocrinopathies: an update. Mol Genet Metab. 2008;94(3):271–82.
Van Vlem B, et al. Dyspepsia and gastric emptying in chronic renal failure patients. Clin Nephrol. 2001;56(4):302–7.
Schoonjans R, et al. Dyspepsia and gastroparesis in chronic renal failure: the role of Helicobacter pylori. Clin Nephrol. 2002;57(3):201–7.
Hirako M, et al. Impaired gastric motility and its relationship to gastrointestinal symptoms in patients with chronic renal failure. J Gastroenterol. 2005;40(12):1116–22.
Boyle JM, Johnston B. Acute upper gastrointestinal hemorrhage in patients with chronic renal disease. Am J Med. 1983;75(3):409–12.
Mitchell CJ, et al. Gastric function and histology in chronic renal failure. J Clin Pathol. 1979;32(3):208–13.
Zuckerman GR, et al. Upper gastrointestinal bleeding in patients with chronic renal failure. Ann Intern Med. 1985;102(5):588–92.
Sohal AS, et al. Uremic bleeding: pathophysiology and clinical risk factors. Thromb Res. 2006;118(3):417–22.
Wesdorp RIC, et al. Gastrin and gastric acid secretion in renal failure. Am J Surg. 1919;141:334–8.
Bumaschny E, et al. Postoperative acute gastrointestinal tract hemorrhage and multiple-organ failure. Arch Surg. 1988;123(6):722–6.
Etemad B. Gastrointestinal complications of renal failure. Gastroenterol Clin N Am. 1998;27(4):875–92.
Tani N, et al. Lesions of the upper gastrointestinal tract in patients with chronic renal failure. Gastroenterol Jpn. 1980;15(5):480–4.
Jaffe RH, Laing DR. Changes of the digestive tract in uremia; pathologic anatomy study. Arch Intern Med. 1934;53:851–64.
Mason EE. Gastrointestinal lesions occurring in uremia. Ann Intern Med. 1952;37(1):96–105.
Kang JY. The gastrointestinal tract in uremia. Dig Dis Sci. 1993;38(2):257–68.
Goldstein H, et al. Gastric acid secretion in patients undergoing chronic dialysis. Arch Intern Med. 1967;120(6):645–53.
Doherty CC, McGeown MG. Peptic ulceration, gastric secretion, and renal transplantation. Br Med J. 1977;2(6080):188.
Milito G, et al. The gastrointestinal tract in uremic patients on long-term hemodialysis. Kidney Int Suppl. 1985;17:S157–60.
Kang JY, et al. Erosive prepyloric changes in patients with end-stage renal failure undergoing maintenance dialysis treatment. Scand J Gastroenterol. 1990;25(7):746–50.
Shousha S, et al. Antral Helicobacter pylori in patients with chronic renal failure. J Clin Pathol. 1990;43(5):397–9.
Var C, et al. The effects of hemodialysis on duodenal and gastric mucosal changes in uremic patients. Clin Nephrol. 1996;45(5):310–4.
Khedmat H, et al. Gastro-duodenal lesions and Helicobacter pylori infection in uremic patients and renal transplant recipients. Transplant Proc. 2007;39(4):1003–7.
Margolis DM, et al. Upper gastrointestinal disease in chronic renal failure. A prospective evaluation. Arch Intern Med. 1978;138(8):1214–7.
Musola R, et al. Prevalence of gastroduodenal lesions in uremic patients undergoing dialysis and after renal transplantation. Gastrointest Endosc. 1984;30(6):343–6.
Kang JY, et al. Prevalence of peptic ulcer in patients undergoing maintenance hemodialysis. Dig Dis Sci. 1988;33(7):774–8.
Kang JY, et al. Peptic ulcer and gastritis in uraemia, with particular reference to the effect of Helicobacter pylori infection. J Gastroenterol Hepatol. 1999;14(8):771–8.
Boudville N. The predictable effect that renal failure has on H2 receptor antagonists – increasing the half-life along with increasing prescribing errors. Nephrol Dial Transplant. 2005;20(11):2315–7.
Stolic RV, et al. Influence of the level of renal insufficiency on endoscopic changes in the upper gastrointestinal tract. Am J Med Sci. 2008;336(1):39–43.
Rashid A, Hamilton SR. Necrosis of the gastrointestinal tract in uremic patients as a result of sodium polystyrene sulfonate (Kayexalate) in sorbitol: an underrecognized condition. Am J Surg Pathol. 1997;21(1):60–9.
Abraham SC, et al. Upper gastrointestinal tract injury in patients receiving kayexalate (sodium polystyrene sulfonate) in sorbitol: clinical, endoscopic, and histopathologic findings. Am J Surg Pathol. 2001;25(5):637–44.
Chatelain D, et al. Rectal stenosis caused by foreign body reaction to sodium polystyrene sulfonate crystals (Kayexalate). Ann Diagn Pathol. 2007;11(3):217–9.
Swanson BJ, et al. Sevelamer crystals in the gastrointestinal tract (GIT): a new entity associated with mucosal injury. Am J Surg Pathol. 2013;37(11):1686–93.
Diamond SM, Emmett M, Henrich WL. Bowel infarction as a cause of death in dialysis patients. JAMA. 1986;256(18):2545–7.
Madden MA, et al. Acute bowel obstruction: an unusual complication of chronic peritoneal dialysis. Am J Kidney Dis. 1982;1(4):219–21.
Bargman JM. Hernias in peritoneal dialysis patients: limiting occurrence and recurrence. Perit Dial Int. 2008;28(4):349–51.
Herbstman D, Kraft SC. Extraintestinal manifestations of gastrointestinal disease and gastrointestinal manifestations of extraintestinal disease. In: Gitnik GL, editor. Current gastroenterology, vol. 6. Chicago: Year Book Medical Publichers; 1986.
Kraft SC, Wang NS. Extraintestinal manifestations of gastrointestinal disease and gastrointestinal manifestations of extraintestinal disease. In: Gitnik GL, editor. Current Gastroenterology. Boston: Houghton Mifflin; 1985. p. 299–351.
Lockyer WA, et al. An outbreak of Salmonella enteritis and septicemia in a population of uremic patients. A review of four cases, including infection of an arteriovenous fistula. Arch Intern Med. 1980;140(7):943–5.
Young R, Bryk D. Colonic intussusception in uremia. Am J Gastroenterol. 1979;71(2):229–32.
Tuthill MH, Stratton J, Warrens AN. Calcific uremic arteriolopathy presenting with small and large bowel involvement. J Nephrol. 2006;19(1):115–8.
Komorowski RA, et al. Gastrointestinal complications in renal transplant recipients. Am J Clin Pathol. 1986;86(2):161–7.
Ponticelli C, Passerini P. Gastrointestinal complications in renal transplant recipients. Transpl Int. 2005;18(6):643–50.
Davies NM, et al. Gastrointestinal side effects of mycophenolic acid in renal transplant patients: a reappraisal. Nephrol Dial Transplant. 2007;22(9):2440–8.
Dominguez Fernandez E, et al. Prevalence of diverticulosis and incidence of bowel perforation after kidney transplantation in patients with polycystic kidney disease. Transpl Int. 1998;11(1):28–31.
Parfitt JR, Jayakumar S, Driman DK. Mycophenolate mofetil-related gastrointestinal mucosal injury: variable injury patterns, including graft-versus-host disease-like changes. Am J Surg Pathol. 2008;32(9):1367–72.
Nguyen T, et al. Mycophenolic acid (cellcept and myofortic) induced injury of the upper GI tract. Am J Surg Pathol. 2009;33(9):1355–63.
Deshpande V. IgG4-related disease of the gastrointestinal tract: a 21st Century Chameleon. Arch Pathol Lab Med. 2015;139(6):742–9.
Finkelberg DL, et al. Autoimmune pancreatitis. N Engl J Med. 2006;355(25):2670–6.
Zen Y, et al. IgG4-related sclerosing cholangitis with and without hepatic inflammatory pseudotumor, and sclerosing pancreatitis-associated sclerosing cholangitis: do they belong to a spectrum of sclerosing pancreatitis? Am J Surg Pathol. 2004;28(9):1193–203.
Deshpande V, et al. IgG4-associated cholangitis: a comparative histological and immunophenotypic study with primary sclerosing cholangitis on liver biopsy material. Mod Pathol. 2009;22(10):1287–95.
Zen Y, et al. Pathological classification of hepatic inflammatory pseudotumor with respect to IgG4-related disease. Mod Pathol. 2007;20(8):884–94.
Koizumi S, et al. Immunoglobulin G4-related gastrointestinal diseases, are they immunoglobulin G4-related diseases? World J Gastroenterol. 2013;19(35):5769–74.
Wong DD, et al. IgG4-related sclerosing disease of the small bowel presenting as necrotizing mesenteric arteritis and a solitary jejunal ulcer. Am J Surg Pathol. 2012;36(6):929–34.
Clayton F, et al. Eosinophilic esophagitis in adults is associated with IgG4 and not mediated by IgE. Gastroenterology. 2014;147(3):602–9.
Geyer JT, et al. Chronic sclerosing sialadenitis (Kuttner tumor) is an IgG4-associated disease. Am J Surg Pathol. 2010;34(2):202–10.
Wallace ZS, Deshpande V, Stone JH. Ophthalmic manifestations of IgG4-related disease: single-center experience and literature review. Semin Arthritis Rheum. 2014;43(6):806–17.
Fujimori N, et al. Retroperitoneal fibrosis associated with immunoglobulin G4-related disease. World J Gastroenterol. 2013;19(1):35–41.
Kuroda N, et al. Chronic sclerosing pyelitis with an increased number of IgG4-positive plasma cells. Med Mol Morphol. 2009;42(4):236–8.
Petre S, Shah IA, Gilani N. Review article: gastrointestinal amyloidosis - clinical features, diagnosis and therapy. Aliment Pharmacol Ther. 2008;27(11):1006–16.
Glenner GG. Amyloid deposits and amyloidosis: the beta-fibrilloses (second of two parts). N Engl J Med. 1980;302(24):1333–43.
Friedman S, Janowitz HD. Systemic amyloidosis and the gastrointestinal tract. Gastroenterol Clin N Am. 1998;27(3):595–614.
Kisslevsky R. Amyloidosis: a familiar problem in the light of current pathogenic developments. Lab Investig. 1983;49:381–90.
Ebert EC, Nagar M. Gastrointestinal manifestations of amyloidosis. Am J Gastroenterol. 2008;103(3):776–87.
Kumar SS, et al. Amyloidosis of the colon. Report of a case and review of the literature. Dis Colon Rectum. 1983;26(8):541–4.
Shimizu S, et al. A case of primary amyloidosis confined to the small intestine. Gastroenterol Jpn. 1986;21(5):513–7.
Bjornsson S, Johannsson JH, Sigurjonsson F. Localized primary amyloidosis of the stomach presenting with gastric hemorrhage. Acta Med Scand. 1987;221(1):115–9.
Garcia-Gonzalez R, et al. Amyloidosis of the rectum mimicking collagenous colitis. Pathol Res Pract. 1998;194(10):731–5.
Sun W, et al. The successful diagnosis and typing of systemic amyloidosis using a microwave-assisted filter-aided fast sample preparation method and LC/MS/MS analysis. PLoS One. 2015;10(5):–e0127180.
Pettersson T, Konttinen YT. Amyloidosis-recent developments. Semin Arthritis Rheum. 2010;39(5):356–68.
Kyle RA, Greipp PR, Amyloidosis (AL). Clinical and laboratory features in 229 cases. Mayo Clin Proc. 1983;58(10):665–83.
Yamada M, Hatakeyama S, Tsukagoshi H. Gastrointestinal amyloid deposition in AL (primary or myeloma-associated) and AA (secondary) amyloidosis: diagnostic value of gastric biopsy. Hum Pathol. 1985;16(12):1206–11.
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The authors agree to the fact that all biopsy procedures and surgical resections were performed after taking informed consent from respective patients as per the individual Institutional policies, which also includes consent for publishing the unidentified clinical images for publication or research purposes. The authors also declare no conflict of interest.
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Patel, N., Das, P., Jain, D. (2022). Systemic Manifestations of Gastrointestinal Tract Diseases and Systemic Diseases Involving the Gastrointestinal Tract. In: Das, P., Majumdar, K., Datta Gupta, S. (eds) Surgical Pathology of the Gastrointestinal System. Springer, Singapore. https://doi.org/10.1007/978-981-16-6395-6_14
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