Gastrointestinal manifestations in APECED syndrome

Journal of Clinical Gastroenterology

Volumn 47, Issue 2, 2013, Pages 112-120

  Kluger, Nicolas ^a   Jokinen, Martta ^a   Krohn, Kai ^b   Ranki, Annamari ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

autoimmune enteropathy; autoimmune polyendocrine syndrome type 1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; Biermer disease; diarrhea; gastritis; hypoparathyroidism

Indexed keywords

AMPHOTERICIN B; ANTIFUNGAL AGENT; FLUCONAZOLE; PANCREAS ENZYME; PYRROLE DERIVATIVE;

ABDOMINAL PAIN; ADAPTIVE IMMUNITY; ADDISON DISEASE; ALCOHOL CONSUMPTION; ANTIMICROBIAL THERAPY; ATROPHIC GASTRITIS; AUTOIMMUNE DISEASE; AUTOIMMUNE ENTEROPATHY; AUTOIMMUNE HEPATITIS; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; BLOATING; CALCIUM INTAKE; CELIAC DISEASE; CHOLELITHIASIS; CHRONIC GASTRITIS; CLOSTRIDIUM DIFFICILE INFECTION; CONSTIPATION; CYSTIC FIBROSIS; DIARRHEA; DYSPHAGIA; ENTEROPATHY; ESOPHAGEAL SQUAMOUS CELL CARCINOMA; ESOPHAGITIS; ESOPHAGUS CANDIDIASIS; ESOPHAGUS CARCINOMA; FUNCTIONAL DISEASE; GASTROINTESTINAL CANDIDIASIS; GASTROINTESTINAL SYMPTOM; GIARDIASIS; GLOSSITIS; HELICOBACTER INFECTION; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; HYPOTHYROIDISM; IMMUNOSUPPRESSIVE TREATMENT; INFLAMMATORY INFILTRATE; INNATE IMMUNITY; INTESTINE INFECTION; INTESTINE LYMPHANGIECTASIA; INTESTINE VILLUS ATROPHY; LACTASE DEFICIENCY; LYMPHOCYTIC INFILTRATION; MALABSORPTION; MOUTH HYGIENE; MUCOCUTANEOUS CANDIDIASIS; NONHUMAN; PANCREAS EXOCRINE INSUFFICIENCY; PERNICIOUS ANEMIA; PRIORITY JOURNAL; RETROSTERNAL PAIN; REVIEW; STEATORRHEA; STOMACH ADENOCARCINOMA; STOMACH ATROPHY; STOMACH CARCINOID; TH17 CELL; THRUSH;

AUTOIMMUNITY; GASTROINTESTINAL DISEASES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PHENOTYPE; POLYENDOCRINOPATHIES, AUTOIMMUNE; PROGNOSIS; RISK FACTORS; TRANSCRIPTION FACTORS;

EID: 84872941474     PISSN: 01920790     EISSN: 15392031     Source Type: Journal    
DOI: 10.1097/MCG.0b013e31827356e1     Document Type: Review

References (66)

1. Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am. 2002;31:295-320, vi.
2. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006;91: 2843-2850.
3. Husebye ES, Perheentupa J, Rautemaa R, et al. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med. 2009;265:514-529.
4. Michels AW, Gottlieb PA. Autoimmune polyglandular syndromes. Nat Rev Endocrinol. 2010;6:270-277.
5. Ahonen P, Myllarniemi S, Sipila I, et al. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990;322:1829-1836.
6. Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine (Baltimore). 1981;60:355-362.
7. Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet. 1992;29:824-826.
8. Betterle C, Greggio NA, Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab. 1998;83:1049-1055.
9. Wolff AS, Erichsen MM, Meager A, et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab. 2007;92:595-603.
10. Orlova EM, Bukina AM, Kuznetsova ES, et al. Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Horm Res Paediatr. 2010;73:449-457.
11. Podkrajsek KT, Milenkovic T, Odink RJ, et al. Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. Eur J Endocrinol. 2008;159:633-639.
12. Zaidi G, Sahu RP, Zhang L, et al. Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians. Clin Genet. 2009;76:441-448.
13. Mazza C, Buzi F, Ortolani F, et al. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candi-diasis-ectodermal dystrophy syndrome. Clin Immunol. 2011;139:6-11.
14. Proust-Lemoine E, Saugier-Veber P, Lefranc D, et al. Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. Horm Res Paediatr. 2010;74:275-284.
15. Betterle C, Ghizzoni L, Cassio A, et al. Autoimmune-polyendocrinopathy- candidiasis-ectodermal-dystrophy (APECED) in Calabria: clinical, immunological and genetic patterns. J Endocrinol Invest. 2011; DOI: 10.3275/8109.
16. Meloni A, Meloni A, Willcox N, et al. Autoimmune polyendo-crine syndrome type 1: an extensive longitudinal study in Sardinian patients. J Clin Endocrinol Metab. 2012;97:1114-1124.
17. Obermayer-Straub P, Perheentupa J, Braun S, et al. Hepatic autoantigens in patients with autoimmune polyendocrinop-athy-candidiasis-ectodermal dystrophy. Gastroenterology. 2001;121:668-677.
18. Proust-Lemoine E, Wemeau JL. Apeced syndrome or autoimmune polyendocrine syndrome type 1. Presse Med. 2008;37:1158-1171.
19. Ward L, Paquette J, Seidman E, et al. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J Clin Endocrinol Metab. 1999;84:844-852.
20. Ramsey C, Winqvist O, Puhakka L, et al. Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet. 2002;11:397-409.
21. Eyerich K, Eyerich S, Hiller J, et al. Chronic mucocutaneous candidiasis, from bench to bedside. Eur J Dermatol. 2010;20: 260-265.
22. Conti HR, Shen F, Nayyar N, et al. Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis. J Exp Med. 2009;206:299-311.
23. Kisand K, Bøe Wolff AS, Podkrajsek KT, et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med. 2010;207:299-308.
24. Kisand K, Lilic D, Casanova JL, et al. Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications. Eur J Immunol. 2011;41:1517-1527.
25. Lilic D, Gravenor I, Robson N, et al. Deregulated production of protective cytokines in response to Candida albicans infection in patients with chronic mucocutaneous candidiasis. Infect Immun. 2003;71:5690-5699.
26. Lilic D, Cant AJ, Abinun M, et al. Chronic mucocutaneous candidiasis. I. Altered antigen-stimulated IL-2, IL-4, IL-6 and nterferon-gamma (IFN-g) production. Clin Exp Immunol. 1996;105:205-212.
27. Rosa DD, Pasqualotto AC, Denning DW. Chronic mucocuta-neous candidiasis and oesophageal cancer. Med Mycol. 2008; 46:85-91.
28. Rautemaa R, Hietanen J, Niissalo S, et al. Oral and oesophageal squamous cell carcinoma-a complication or component of autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED, APS-I). Oral Oncol. 2007; 43:607-613.
29. Koch D, Lilic D, Carmichael AJ. Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma. Clin Exp Dermatol. 2009;34:e818-e820.
30. Rautemaa R, Richardson M, Pfaller M, et al. Reduction of fluconazole susceptibility of Candida albicans in APECED patients due to long-term use of ketoconazole and miconazole. Scand J Infect Dis. 2008;40:904-907.
31. Siikala E, Richardson M, Pfaller MA, et al. Candida albicans isolates from APECED patients show decreased susceptibility to miconazole. Int J Antimicrob Agents. 2009;34:607-609.
32. Siikala E, Bowyer P, Richardson M, et al. ADH1 expression inversely correlates with CDR1 and CDR2 in Candida albicans from chronic oral candidosis in APECED (APS-I) patients. FEMS Yeast Res. 2011;11:494-498.
33. Toh BH, van Driel IR, Gleeson PA. Pernicious anemia. N Engl J Med. 1997;337:1441-1448.
34. +-adenosine triphosphatase of the stomach. J Clin Invest. 1988;81:475-479.
35. +/K(+)-ATPase (proton pump). Proc Natl Acad Sci USA. 1990;87:6418-6422.
36. Ekwall O, Hedstrand H, Grimelius L, et al. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet. 1998;352:279-283.
37. Oliva-Hemker M, Berkenblit GV, Anhalt GJ, et al. Pernicious anemia and widespread absence of gastrointestinal endocrine cells in a patient with autoimmune polyglandular syndrome type I and malabsorption. J Clin Endocrinol Metab. 2006;91:2833-2838.
38. Uibo R, Krohn K, Villako K, et al. The relationship of parietal cell, gastrin cell, and thyroid autoantibodies to the state of the gastric mucosa in a population sample. Scand J Gastroenterol. 1984;19:1075-1080.
39. Uibo RM, Krohn KJ. Demonstration of gastrin cell autoanti-bodies in antral gastritis with avidin-biotin complex antibody technique. Clin Exp Immunol. 1984;58:341-347.
40. Camilleri M. Chronic diarrhea: a review on pathophysiology and management for the clinical gastroenterologist. Clin Gastroenterol Hepatol. 2004;2:198-206.
41. Juckett G, Trivedi R. Evaluation of chronic diarrhea. Am Fam Physician. 2011;84:1119-1126.
42. Ebert EC. The parathyroids and the gut. J Clin Gastroenterol. 2010;44:479-482.
43. Abboud B, Daher R, Boujaoude J. Digestive manifestations of parathyroid disorders. World J Gastroenterol. 2011;17:4063-4066.
44. Heubi JE, Partin JC, Schubert WK. Hypocalcemia and steatorrhea-clues to etiology. Dig Dis Sci. 1983;28:124-128.
45. Peracchi M, Bardella MT, Conte D. Late-onset idiopathic hypoparathyroidism as a cause of diarrhoea. Eur J Gastro-enterol Hepatol. 1998;10:163-165.
46. Hogenauer C, Meyer RL, Netto GJ, et al. Malabsorption due to cholecystokinin deficiency in a patient with autoimmune poly-glandular syndrome type I. N Engl J Med. 2001;344:270-274.
47. Unsworth DJ, Walker-Smith JA. Autoimmunity in diarrhoeal disease. J Pediatr Gastroenterol Nutr. 1985;4:375-380.
48. Freeman HJ. Adult autoimmune enteropathy. World J Gastro-enterol. 2008;14:1156-1158.
49. Montalto M, D'Onofrio F, Santoro L, et al. Autoimmune enteropathy in children and adults. Scand J Gastroenterol. 2009;44:1029-1036.
50. Mais DD, Mulhall BP, Adolphson KR, et al. Thymoma-associated autoimmune enteropathy. A report of two cases. Am J Clin Pathol. 1999;112:810-815.
51. Posovszky C, Lahr G, von Schnurbein J, et al. Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. J Clin Endocrinol Metab. 2012;97:E292-E300.
52. Skoldberg F, Portela-Gomes GM, Grimelius L, et al. Histidine decarboxylase, a pyridoxal phosphate-dependent enzyme, is an autoantigen of gastric enterochromaffin-like cells. J Clin Endocrinol Metab. 2003;88:1445-1452.
53. Ohsie S, Gerney G, Gui D, et al. A paucity of colonic enteroendocrine and/or enterochromaffin cells characterizes a subset of patients with chronic unexplained diarrhea/malab-sorption. Hum Pathol. 2009;40:1006-1014.
54. Padeh S, Theodor R, Jonas A, et al. Severe malabsorption in autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome successfully treated with immunosuppres-sion. Arch Dis Child. 1997;76:532-534.
55. Hori K, Fukuda Y, Tomita T, et al. Intestinal goblet cell autoantibody associated enteropathy. J Clin Pathol. 2003;56: 629-630.
56. Al Khalidi H, Kandel G, Streutker CJ. Enteropathy with loss of enteroendocrine and Paneth cells in a patient with immune dysregulation: a case of adult autoimmune enteropathy. Hum Pathol. 2006;37:373-376.
57. Green PH, Cellier C. Celiac disease. N Engl J Med. 2007;357: 1731-1743.
58. Friedman M, Ramsay DB, Borum ML. An unusual case report of small bowel Candida overgrowth as a cause of diarrhea and review of the literature. Dig Dis Sci. 2007;52:679-680.
59. Scire G, Magliocca FM, Cianfarani S, et al. Autoimmune polyendocrine candidiasis syndrome with associated chronic diarrhea caused by intestinal infection and pancreas insufficiency. J Pediatr Gastroenterol Nutr. 1991;13:224-227.
60. Dominguez-Munoz JE. Pancreatic exocrine insufficiency: diagnosis and treatment. J Gastroenterol Hepatol. 2011;26(suppl 2):12-16.
61. Hardt PD, Ewald N. Exocrine pancreatic insufficiency in diabetes mellitus: a complication of diabetic neuropathy or a different type of diabetes? Exp Diabetes Res. 2011; 2011:761950. DOI: 10.1155/2011/761950.
62. McMahon FC, Cookson DV, Kabler JD, et al. Idiopathic hypoparathyroidism and idiopathic adrenal cortical insufficiency occurring with cystic fibrosis of the pancreas. Ann Intern Med. 1959;51:371-384.
63. Bereket A, Lowenheim M, Blethen SL, et al. Intestinal lymphangiectasia in a patient with autoimmune polyglandular disease type I and steatorrhea. J Clin Endocrinol Metab. 1995;80:933-935.
64. Makharia GK, Tandon N, Stephen Nde J, et al. Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. Indian J Gastroenterol. 2007;26:293-295.
65. Friedman TC, Thomas PM, Fleisher TA, et al. Frequent occurrence of asplenism and cholelithiasis in patients with autoimmune polyglandular disease type I. Am J Med. 1991;91: 625-630.
66. Jarvela I, Torniainen S, Kolho KL. Molecular genetics of human lactase deficiencies. Ann Med. 2009;41:568-575.