期刊论文详细信息
BMC Gastroenterology
Screening for celiac disease in 1st degree relatives: a 10-year follow-up study
Riccardo Pratesi1  Yanna K M Nóbrega1  Fernanda C Almeida1  Patrícia M Fritsch1  Lucas M Almeida1  Lenora Gandolfi1  Rosa H Uenishi1 
[1] Research Center for Celiac Disease, University of Brasilia School of Medicine, Brasilia, DF, Brazil
关键词: Prevalence;    Incidence;    Serologic tests;    First degree relatives;    Celiac disease;   
Others  :  855699
DOI  :  10.1186/1471-230X-14-36
 received in 2013-01-21, accepted in 2014-02-17,  发布年份 2014
PDF
【 摘 要 】

Background

Although it is known that first degree relatives of celiac patients have an increased risk for celiac disease few studies are available on its incidence. We investigated the incidence of serologic conversion and of new cases of celiac disease among first degree relatives with negative results at a first screening.

Methods

From a total of 634 first degree relatives of 186 biopsy-proven celiac disease patients diagnosed between October 2000 and October 2010, 450 subjects agreed to participate in the study (Group I), and underwent serologic screening. Between January 2010 and October 2012, out of the initial group of 450, 205 previously sero-negative subjects consented to participate in a second stage of the study and undergo new serologic testing (Group II). All serologically positive individuals of both groups (I and II) were genotyped for celiac disease-predisposing alleles (HLA-DQ2/DQ8).

Results

19 subjects (4.2%) out of the 450 subjects of Group I disclosed positive serologic results, presence of DQ2 and/or DQ8 alleles and celiac disease-compatible mucosal abnormalities. The 205 previously negative first degree relatives from Group II that underwent new serologic testing disclosed eight sero-converted subjects. Mucosal abnormalities in five of these patients confirmed the diagnosis of celiac disease. During the 10-year period of the study the incidence of sero-conversion was 8/205 and the incidence of biopsy-proven celiac disease cases was 5/205.

Conclusions

Our data are coincident with other works on this subject and confirm once again that relatives of celiac patients, especially first degree relatives are at high risk of developing celiac disease. In view of the relatively low incidence further studies are needed to try to establish a useful and cost-effective algorithm for follow-up of relatives of celiac patients.

【 授权许可】

   
2014 Uenishi et al.; licensee BioMed Central Ltd.

【 预 览 】
附件列表
Files Size Format View
20140722055703467.pdf 154KB PDF download
46KB Image download
【 图 表 】

【 参考文献 】
  • [1]Green PH, Cellier C: Celiac disease. N Engl J Med 2007, 357:1731-1743. doi:10.1056/NEJMra071600
  • [2]Biagi F, Klersy C, Balduzzi D, Corazza GR: Are we not over-estimating the prevalence of coeliac disease in the general population? Ann Med 2010, 42:557-561. doi:10.3109/07853890.2010.523229
  • [3]Malekzadeh R, Sachdev A, Fahid AA: Coeliac disease in developing countries: Middle East, India and North Africa. Best Pract Res Clin Gastroenterol 2005, 19:351-358. doi:10.1016/j.bpg.2005.01.004
  • [4]Pratesi R, Gandolfi L, Catassi C: Celiac disease in South America. In The Global village of Coeliac disease. Perspectives on Coeliac disease. II edition. Edited by Catassi C, Fasano A, Corazza GR P. Italy: Italian Coeliac Society; 2005:137-143.
  • [5]Crovella S, Brandao L, Guimaraes R, de Lima Filho JL, Arraes LC, Ventura A, Not T: Speeding up coeliac disease diagnosis in the developing countries. Dig Liver Dis 2007, 39:900-902. doi:10.1016/j.dld.2007.04.016
  • [6]Pratesi R, Gandolfi L, Garcia SG, Modelli IC, Lopes de Almeida P, Bocca AL, Catassi C: Prevalence of coeliac disease: unexplained age-related variation in the same population. Scand J Gastroenterol 2003, 38:747-750.
  • [7]Oliveira RP, Sdepanian VL, Barreto JA, Cortez AJ, Carvalho FO, Bordin JO, de Camargo Soares MA, da Silva Patrício FR, Kawakami E, de Morais MB, Fagundes- Neto U: High prevalence of celiac disease in Brazilian blood donor volunteers based on screening by IgA antitissue transglutaminase antibody. Eur J Gastroenterol Hepatol 2007, 19:43-49. doi:10.1097/01.meg.0000250586.61232.a3
  • [8]Gandolfi L, Pratesi R, Cordoba JC, Tauil PL, Gasparin M, Catassi C: Prevalence of celiac disease among blood donors in Brazil. Am J Gastroenterol 2000, 95:689-692. doi:10.1111/j.1572-0241.2000.01847.x
  • [9]Greco L, Romino R, Coto I, Di Cosmo N, Percopo S, Maglio M, Paparo F, Gasperi V, Limongelli MG, Cotichini R, D’Agate C, Tinto N, Sacchetti L, Tosi R, Stazi MA: The first large population based twin study of coeliac disease. Gut 2002, 50:624-628.
  • [10]Fasano A, Catassi C: Clinical practice. Celiac disease. N Engl J Med 2012, 367:2419-2426. doi:10.1056/NEJMcp1113994
  • [11]Goldberg D, Kryszak D, Fasano A, Green PH: Screening for celiac disease in family members: is follow-up testing necessary? Dig Dis Sci 2007, 52:1082-1086. doi:10.1007/s10620-006-9518-1
  • [12]Niveloni S, Pedreira S, Sugai E, Vazquez H, Smecuol E, Fiorini A, Cabanne A, Dezi R, Valero J, Kogan Z, Maurino E, Bai JC: The natural history of gluten sensitivity: report of two new celiac disease patients resulting from a longterm follow-up of nonatrophic, first-degree relatives. Am J Gastroenterol 2000, 95:463-468. doi:10.1111/j.1572-0241.2000.01769.x
  • [13]Högberg L, Fälth-Magnusson K, Grodzinsky E, Stenhammar L: Familial prevalence of coeliac disease: a twenty-year follow-up study. Scand J Gastroenterol 2003, 38:61-65.
  • [14]Pittschieler K, Gentili L, Niederhofer H: Onset of coeliac disease: a prospective longitudinal study. Acta Paediatr 2003, 92:1149-1152. doi:10.1111/j.1651- 2227.2003.tb02475.x
  • [15]Biagi F, Campanella J, Bianchi PI, Zanellati G, Capriglione I, Klersy C, Corazza GR: The incidence of coeliac disease in adult first degree relatives. Dig Liver Dis 2008, 40:97-100. doi:org/10.1016/j.dld.2007.10.004
  • [16]Nass FR, Kotze LM, Nisihara RM, de Messias-Reason IJ, Ramos da Rosa Utiyama S: Serological and clinical follow-up of relatives of celiac disease patients from southern Brazil. Digestion 2011, 83:89-95. doi:10.1159/000320451
  • [17]Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, Elitsur Y, Green PH, Guandalini S, Hill ID, Pietzak M, Ventura A, Thorpe M, Kryszak D, Fornaroli F, Wasserman SS, Murray JA, Horvath K: Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med 2003, 163:286-292. doi:10.1001/archinte.163.3.286
  • [18]Rubio-Tapia A, Kyle RA, Kaplan EL, Johnson DR, Page W, Erdtmann F, Brantner TL, Kim WR, Phelps TK, Lahr BD, Zinsmeister AR, Melton LJ 3rd, Murray JA: Increased prevalence and mortality in undiagnosed celiac disease. Gastroenterology 2009, 137:88-93. doi:10.1053/j.gastro.2009.03.059
  • [19]Shamir R, Hernell O, Leshno M: Cost-effectiveness analysis of screening for celiac disease in the adult population. Med Decis Making 2006, 26:28293. doi:10.1177/0272989X06289012
  • [20]Fasano A: Should we screen for coeliac disease? Yes. BMJ 2009, 339:b3592. doi:10.1136/bmj.b3592
  • [21]Aggarwal S, Lebwohl B, Green PH: Screening for celiac disease in averagerisk and high-risk populations. Ther Adv Gastroenterol 2012, 5:37-47. doi:10.1177/1756283X11417038
  • [22]Evans KE, Hadjivassiliou M, Sanders DS: Is it time to screen for adult coeliac disease? Eur J Gastroenterol Hepatol 2011, 23:833-838. doi:10.1097/MEG.0b013e328348f9aa
  • [23]Catassi C, Kryszak D, Bhatti B, Sturgeon C, Helzlsouer K, Clipp SL, Gelfond D, Puppa E, Sferruzza A, Fasano A: Natural history of celiac disease autoimmunity in a USA cohort followed since 1974. Ann Med 2010, 42:530-538. doi:10.3109/07853890.2010.514285
  • [24]National Institute of Health: NIH Consensus Development Conference on Celiac Disease. http://consensus.nih.gov/2004/2004celiacdisease118html.htm webcite
  • [25]Megiorni F, Pizzuti A: HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing. J Biomed Sci 2012, 19:88. doi:10.1186/1423-0127-19-88 BioMed Central Full Text
  • [26]Chang M, Green PH: Genetic testing before serologic screening in relatives of patients with celiac disease as a cost containment method. J Clin Gastroenterol 2009, 43:43-50. doi:10.1097/MCG.0b013e318187311d
  • [27]Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, Ciclitira PJ, Sollid LM, Partanen J, European Genetics Cluster on Celiac Disease: HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease. Hum Immunol 2003, 64:469-477. doi:org/10.1016/S0198-8859(03)00027-2
  • [28]Dubé C, Rostom A, Sy R, Cranney A, Saloojee N, Garritty C, Sampson M, Zhang L, Yazdi F, Mamaladze V, Pan I, Macneil J, Mack D, Patel D, Moher D: The prevalence of celiac disease in average-risk and at-risk Western European populations: a systematic review. Gastroenterology 2005, 128:S57-S67. doi:org/10.1053/j.gastro.2005.02.014
  • [29]Mustalahti K, Sulkanen S, Holopainen P, Laurila K, Collin P, Partanen J, Mäki M: Coeliac disease among healthy members of multiple case coeliac disease families. Scand J Gastroenterol 2002, 37:161-165.
  • [30]Biagi F, Corazza GR: First-degree relatives of celiac patients: are they at an increased risk of developing celiac disease? J Clin Gastroenterol 2009, 43:3-4. doi:10.1097/MCG.0b013e31818ca609
  文献评价指标  
  下载次数:25次 浏览次数:24次