Skip to main content

Advertisement

Log in

Screening for Celiac Disease in Family Members: Is Follow-up Testing Necessary?

  • Original Paper
  • Published:
Digestive Diseases and Sciences Aims and scope Submit manuscript

Abstract

Celiac disease is a genetically determined intolerance to gluten that results in villous atrophy in the small intestine. Because celiac disease occurs in families, relatives of affected individuals are tested for the disease. However, there are no evidence-based guidelines for when, or how often, to test relatives. Our goal was to determine if one-time screening of relatives is sufficient. Of 171 family members with an initially negative endomysial antibody who were tested on more than one occasion, 6 (3.5%) were positive on repeat testing. The average time to seroconversion was 1.7±1.2 years (range, 6 months–3 years 2 months). Only one of the seroconverters had diarrhea; the remainder were asymptomatic. None of the patients had a change in symptoms between testing. We conclude that one-time testing for celiac disease among families with affected members is insufficient. Repeat testing should occur irrespective of the presence of symptoms.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. James SP (2005) National Institutes of Health consensus development conference statement on celiac disease, June 28–30, 2004. Gastroenterology 128:S1–S9

    Article  Google Scholar 

  2. Green PH, Jabri B (2003) Coeliac disease. Lancet 362:383–391

    Article  PubMed  CAS  Google Scholar 

  3. Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, Elitsur Y, Green PH, Guandalini S, Hill ID, Pietzak M, Ventrua A, Thorpe M, Kryszak D, Fornaroli F, Wasserman SS, Murray JA, Horvath K (2003) Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med 163:286–292

    Article  PubMed  Google Scholar 

  4. Lo W, Sano K, Lebwohl B, Diamond B, Green PH (2003) Changing presentation of adult celiac disease. Dig Dis Sci 48:395–398

    Article  PubMed  Google Scholar 

  5. Sblattero D, Berti I, Trevisiol C, Marzari R, Tommasini A, Bradbury A, Fasano A, Ventura A, Not T (2000) Human recombinant tissue transglutaminase ELISA: an innovative diagnostic assay for celiac disease. Am J Gastroenterol 95:1253–1257

    Article  PubMed  CAS  Google Scholar 

  6. Verhulst ML, Dur AH, Driessen WM (1993) Two sisters with coeliac disease and jejunal cancer: just a coincidence? Neth J Med 42:16–20

    PubMed  CAS  Google Scholar 

  7. Vitoria JC, Arrieta A, Astigarraga I, Garcia-Masdevall D, Rodriguez-Soriano J (1994) Use of serological markers as a screening test in family members of patients with celiac disease. J Pediatr Gastroenterol Nutr 19:304–309

    Article  PubMed  CAS  Google Scholar 

  8. Niveloni S, Pedreira S, Sugai E, Vazquez H, Smecuol E, Fiorini A, Cabanne A, Dezi R, Valero J, Kogan Z, Maurino E, Bai JC (2000) The natural history of gluten sensitivity: report of two new celiac disease patients resulting from a long-term follow-up of nonatrophic, first-degree relatives. Am J Gastroenterol 95:463–468

    Article  PubMed  CAS  Google Scholar 

  9. Rostami K, Mulder CJ, van Overbeek FM, Kerckhaert J, Meijer JW, von Blomberg MB, Heymans HS (2000) Should relatives of coeliacs with mild clinical complaints undergo a small-bowel biopsy despite negative serology? Eur J Gastroenterol Hepatol 12:51–55

    Article  PubMed  CAS  Google Scholar 

  10. Pittschieler K, Gentili L, Niederhofer H (2003) Onset of coeliac disease: a prospective longitudinal study. Acta Paediatr 92:1149–1152

    Article  PubMed  CAS  Google Scholar 

  11. Hogberg L, Falth-Magnusson K, Grodzinsky E, Stenhammar L (2003) Familial prevalence of coeliac disease: a twenty-year follow-up study. Scand J Gastroenterol 38:61–65

    Article  PubMed  CAS  Google Scholar 

  12. Dolinsek J, Urlep D, Karell K, Partanen J, Micetic-Turk D (2004) The prevalence of celiac disease among family members of celiac disease patients. Wien Klin Wochenschr 116(Suppl 2):8–12

    PubMed  Google Scholar 

  13. Murray JA (2005) Celiac disease in patients with an affected member, type 1 diabetes, iron-deficiency, or osteoporosis? Gastroenterology 128:S52–S56

    Article  PubMed  Google Scholar 

  14. Vazquez H, Sugai E, Pedreira S, Katz S, Litwin N, De Rosa S, Ruiz J, Soifer G, Kogan Z, Boerr L (1995) Screening for asymptomatic celiac sprue in families. J Clin Gastroenterol 21:130–133

    Article  PubMed  CAS  Google Scholar 

  15. Szaflarska-Szczepanik A, Czerwionka-Szaflarska M (2001) The frequency of occurrence and clinical picture of celiac disease in the parents of children with the disease. Med Sci Monit 7:971–976

    PubMed  CAS  Google Scholar 

  16. Farre C, Humbert P, Vilar P, Varea V, Aldeguer X, Carnicer J, Carballo M, Gassull MA (1999) Serological markers and HLA-DQ2 haplotype among first-degree relatives of celiac patients. Dig Dis Sci 44:2344–2349

    Article  PubMed  CAS  Google Scholar 

  17. Bonamico M, Ferri M, Mariani P, Nenna R, Thanasi E, Luparia RP, Picarelli A, Magliocca FM, Mora B, Bardella MT, Verrienti A, Fiore B, Uccini S, Megiorni F, Mazzilli MC, Tiberti C (2006) Serologic and genetic markers of celiac disease: a sequential study in the screening of first degree relatives. J Pediatr Gastroenterol Nutr 42:150–154

    Article  PubMed  Google Scholar 

  18. Book L, Zone JJ, Neuhausen SL (2003) Prevalence of celiac disease among relatives of sib pairs with celiac disease in U.S. families. Am J Gastroenterol 98:377–381

    Article  PubMed  Google Scholar 

  19. 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 (2002) The first large population based twin study of coeliac disease. Gut 50:624–628

    Article  PubMed  CAS  Google Scholar 

  20. Valdimarsson T, Franzen L, Grodzinsky E, Skogh T, Strom M (1996) Is small bowel biopsy necessary in adults with suspected celiac disease and IgA anti-endomysium antibodies? 100% positive predictive value for celiac disease in adults. Dig Dis Sci 41:83–87

    Article  PubMed  CAS  Google Scholar 

  21. Fasano A, Catassi C (2001) Current approaches to diagnosis and treatment of celiac disease: an evolving spectrum. Gastroenterology 120:636–651

    Article  PubMed  CAS  Google Scholar 

  22. Rostom A, Dube C, Cranney A, Saloojee N, Sy R, Garritty C, Sampson M, Zhang L, Yazdi F, Mamaladze V, Pan I, MacNeil J, Mack D, Patel D, Moher D (2005) The diagnostic accuracy of serologic tests for celiac disease: a systematic review. Gastroenterology 128:S38–S46

    Article  PubMed  Google Scholar 

  23. Abrams J, Diamond B, Rotterdam H, Green PH (2004) Seronegative celiac disease: increased prevalence with lesser degrees of villous atrophy. Dig Dis Sci 49:546–550

    Article  PubMed  Google Scholar 

  24. Rostami K, Kerckhaert J, Tiemessen R, von Blomberg BM, Meijer JW, Mulder CJ (1999) Sensitivity of antiendomysium and antigliadin antibodies in untreated celiac disease: disappointing in clinical practice. Am J Gastroenterol 94:888–894

    Article  PubMed  CAS  Google Scholar 

  25. Ashabani A, Errabtea H, Shapan A, Tuckova L, Tlaskalova-Hogenova H (2001) Serologic markers of untreated celiac disease in Libyan children: antigliadin, antitransglutaminase, antiendomysial, and anticalreticulin antibodies. J Pediatr Gastroenterol Nutr 33:276–282

    Article  PubMed  CAS  Google Scholar 

  26. Dickey W, Hughes DF, McMillan SA (2000) Reliance on serum endomysial antibody testing underestimates the true prevalence of coeliac disease by one fifth. Scand J Gastroenterol 35:181–183

    Article  PubMed  CAS  Google Scholar 

  27. Tursi A, Brandimarte G, Giorgetti GM, Inchingolo CD (2003) Effectiveness of the sorbitol H2 breath test in detecting histological damage among relatives of coeliacs. Scand J Gastroenterol 38:727–731

    Article  PubMed  CAS  Google Scholar 

  28. Smecuol E, Vazquez H, Sugai E, Niveloni S, Pedreira S, Cabanne A, Fiorini A, Kogan Z, Maurino E, Meddings J, Bai JC (1999) Sugar tests detect celiac disease among first-degree relatives. Am J Gastroenterol 94:3547–3552

    Article  PubMed  CAS  Google Scholar 

  29. Rostom A, Dube C, Cranney A, Saloojee N, Sy R, Garritty C, Sampson M, Zhang L, Yazdi F, Mamaladze V, Pan I, MacNeil J, Mack D, Patel D, Moher D (2005) The diagnostic accuracy of serologic tests for celiac disease: a systematic review. Gastroenterology 128:S38–S46

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Peter H. R. Green.

Additional information

There were no funding sources or study sponsors for this publication.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Goldberg, D., Kryszak, D., Fasano, A. et al. Screening for Celiac Disease in Family Members: Is Follow-up Testing Necessary?. Dig Dis Sci 52, 1082–1086 (2007). https://doi.org/10.1007/s10620-006-9518-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10620-006-9518-1

Keywords

Navigation