FaCD Online Syndrome Fact Sheet

Last updated: 05 Mar 2008

Name: Celiac Disease

Synonym: Celiac Sprue

Mode of Inheritance: multifact

Tumor features

esophageal cancer
lymphoma, intestinal
melanoma, cutaneous
non-Hodgkin lymphoma
small intestinal cancer
thyroid cancer, papillary

Tumor features (possible)

fibrosarcoma

Non-tumor features

gluten-induced enteropathy

Comment

This disorder is characterized by a gluten-induces enteropathy of the small intestine: resulting in a striking loss of villi and consequently a marked reduction in the intestinal absorbative surface area. Familial clustering has been reported, including that of asymptomatic gluten sensitivity in first degree relatives of patients[1;2]. There appears to be an increased risk of intestinal lymphomas (particularly the type referred to as enteropathy associated T-cell lymphoma) in patients with celiac disease. [3-8]. Other tumors appear to be associated with celiac disease as well: melanoma, esophageal cancer and adenocarcinoma of the small intestine

A large number of genes / gene locations are associated with celiac disease. The list is too long to show in this file.

Links

Celiac Disease Foundation 18 1 08

References

[1] Dezi R, Niveloni S, Sugai E, Pedreira S, Smecuol E, Vazquez H, Doldan I, Cabanne A, Boerr L, Valero J, Kogan Z, Maurino E, Bai JC. Gluten sensitivity in the rectal mucosa of first-degree relatives of celiac disease patients. Am J Gastroenterol 1997; 92(8):1326-1330.
[2] Lio D, Bonanno CT, D'Anna C, De Luca S, Gervasi F, Cavataio F, Iacono F, Salerno A. Gluten stimulation induces an in vitro expansion of peripheral blood T gamma delta cells from HLA-DQ2-positive subjects of families of patients with celiac disease. Exp Clin Immunogenet 1998; 15(1):46-55.
[3] Howell WM, Leung ST, Jones DB, Nakshabendi I, Hall MA, Lanchbury JS, Ciclitira PJ, Wright DH. HLA-DRB, -DQA, and -DQB polymorphism in celiac disease and enteropathy-associated T-cell lymphoma - Common features and additional risk factors for malignancy. Hum Immunol 1995; 43:29-37.
[4] Arnaud Battandier F, Schmitz J, Ricour C, Rey J. Intestinal malignant lymphoma in a child with familial celiac disease. J Pediatr Gastroenterol Nutr 1983; 2(2):320-323.
[5] Verkasalo M, Savilahti E, Rapola J, Wallgren EI. Fibrosarcoma in a girl with celiac disease and IgA deficiency. J Pediatr Gastroenterol Nutr 1985; 4(5):839-841.
[6] Mcmanus R, Wilson AG, Mausfield J, Weir DG, Duff GW, Kelleher D. TNF2, a polymorphism of the tumour necrosis-alpha gene promoter, is a component of the celiac disease major histocompatibility complex haplotype. Eur.J.Immunol. 26[9], 2113-2118. 1996.
[7] Greco L, Corazza G, Babron MC, Clot F, Fulchignoni-Lataud MC, Percopo S, Zavattari P, Bouguerra F, Dib C, Tosi R, Troncone R, Ventura A, Mantavoni W, Maguzzi G, Gatti R, Lazzari R, Giunta AM, Perri F, Iacono G, Cardi E, de Virgiliis S, Cataldo F, de Angelis G, Musumeci S, Ferrari R, Balli F, Bardella MT, Volta U, Catassi C, Torre G, Eliaou JF, Serre JL, Clerget-Darpoux F. Genome search in celiac disease. Am J Hum Genet 1998; 62:669-675.
[8] Wright DH. Enteropathy associated T cell lymphoma. Cancer Surv 1997; 30: 249-61:249-261.
[9] Green PH, Cellier C. Celiac disease. The New England journal of medicine 2007; 357(17):1731-43.
[10] Bhagat G, Leffler D, Bilezikian JP, Green PH. Cystosarcoma phyllodes of the breast occurring in a child with subsequent diagnosis of celiac disease. Journal of pediatric gastroenterology and nutrition 2003; 36(5):644-6.
[11] Ahluwalia M, Gotlieb V, Damerla V, Saif MW. Aggressive Burkitt-like lymphoma of colon in a patient with prior celiac disease. The Yale journal of biology and medicine 2006; 79(3-4):173-5.
[12] Zettl A, deLeeuw R, Haralambieva E, Mueller-Hermelink HK. Enteropathy-type T-cell lymphoma. American journal of clinical pathology 2007; 127(5):701-6.
[13] Silano M, Volta U, Mecchia AM, Dessì M, Di Benedetto R, De Vincenzi M, . Delayed diagnosis of coeliac disease increases cancer risk. BMC gastroenterology 2007; 7():8.
[14] Mearin ML, Catassi C, Brousse N, Brand R, Collin P, Fabiani E, Schweizer JJ, Abuzakouk M, Szajewska H, Hallert C, Farré Masip C, Holmes GK, . European multi-centre study on coeliac disease and non-Hodgkin lymphoma. European journal of gastroenterology & hepatology 2006; 18(2):187-94.
[15] Catassi C, Fabiani E, Corrao G, Barbato M, De Renzo A, Carella AM, Gabrielli A, Leoni P, Carroccio A, Baldassarre M, Bertolani P, Caramaschi P, Sozzi M, Guariso G, Volta U, Corazza GR, . Risk of non-Hodgkin lymphoma in celiac disease. JAMA : the journal of the American Medical Association 2002; 287(11):1413-9.
[16] Smedby KE, Akerman M, Hildebrand H, Glimelius B, Ekbom A, Askling J. Malignant lymphomas in coeliac disease: evidence of increased risks for lymphoma types other than enteropathy-type T cell lymphoma. Gut 2005; 54(1):54-9.
[17] Kent L, McBride R, McConnell R, Neugut AI, Bhagat G, Green PH. Increased risk of papillary thyroid cancer in celiac disease. Digestive diseases and sciences 2006; 51(10):1875-7.
[18] Green PH, Fleischauer AT, Bhagat G, Goyal R, Jabri B, Neugut AI. Risk of malignancy in patients with celiac disease. The American journal of medicine 2003; 115(3):191-5.