Objectives: The prevalence of celiac disease (CD) among the relatives and the complications of an undiagnosed CD prompted us to identify a useful disease screening strategy. Methods: We studied 441 first degree relatives of 208 CD patients by immunoglobulin (Ig)A antiendomysium antibodies (EMA) and radioimmunoprecipitation assay (RIA) IgA anti-transglutaminase autoantibodies (TGAA). Of these, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes by the polymerase chain reaction sequence specific primers method. It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy. Results: TGAA were positive in 46 of 439 relatives, EMA in 38; intestinal lesions related to CD were present in 40 subjects. We also found two immunodeficient fathers with duodenal villous atrophy. In three serology-positive subjects, permission for intestinal biopsy was refused; for another three serology-positive cases, duodenal mucosa was normal. Thus, the strict CD prevalence resulted 9.5%, the enlarged prevalence 10.9%. The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients. Three DQ2-positive parents became positive to the serology during a long-lasting follow-up. Conclusions: On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up. (C) 2006 Lippincott Williams & Wilkins.

Serologic and genetic markers of celiac disease: A sequential study in the screening of first degree relatives / Bonamico, Margherita; Mirella, Ferri; Paolo, Mariani; Nenna, Raffaella; Enina, Thanasi; Rpl, Luparia; Picarelli, Antonio; Magliocca, Fabio Massimo; Barbara, Mora; Maria Teresa, Bardella; Verrienti, Antonella; Benedetta, Fiore; Uccini, Stefania; Megiorni, Francesca; Mazzilli, Maria Cristina; Claudio, Tiberti. - In: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION. - ISSN 0277-2116. - 42:2(2006), pp. 150-154. [10.1097/01.mpg.0000189337.08139.83]

Serologic and genetic markers of celiac disease: A sequential study in the screening of first degree relatives

BONAMICO, Margherita;NENNA, RAFFAELLA;PICARELLI, Antonio;MAGLIOCCA, Fabio Massimo;VERRIENTI, Antonella;UCCINI, Stefania;MEGIORNI, Francesca;MAZZILLI, Maria Cristina;
2006

Abstract

Objectives: The prevalence of celiac disease (CD) among the relatives and the complications of an undiagnosed CD prompted us to identify a useful disease screening strategy. Methods: We studied 441 first degree relatives of 208 CD patients by immunoglobulin (Ig)A antiendomysium antibodies (EMA) and radioimmunoprecipitation assay (RIA) IgA anti-transglutaminase autoantibodies (TGAA). Of these, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes by the polymerase chain reaction sequence specific primers method. It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy. Results: TGAA were positive in 46 of 439 relatives, EMA in 38; intestinal lesions related to CD were present in 40 subjects. We also found two immunodeficient fathers with duodenal villous atrophy. In three serology-positive subjects, permission for intestinal biopsy was refused; for another three serology-positive cases, duodenal mucosa was normal. Thus, the strict CD prevalence resulted 9.5%, the enlarged prevalence 10.9%. The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients. Three DQ2-positive parents became positive to the serology during a long-lasting follow-up. Conclusions: On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up. (C) 2006 Lippincott Williams & Wilkins.
2006
celiac disease; hla; relatives; serology
01 Pubblicazione su rivista::01a Articolo in rivista
Serologic and genetic markers of celiac disease: A sequential study in the screening of first degree relatives / Bonamico, Margherita; Mirella, Ferri; Paolo, Mariani; Nenna, Raffaella; Enina, Thanasi; Rpl, Luparia; Picarelli, Antonio; Magliocca, Fabio Massimo; Barbara, Mora; Maria Teresa, Bardella; Verrienti, Antonella; Benedetta, Fiore; Uccini, Stefania; Megiorni, Francesca; Mazzilli, Maria Cristina; Claudio, Tiberti. - In: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION. - ISSN 0277-2116. - 42:2(2006), pp. 150-154. [10.1097/01.mpg.0000189337.08139.83]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/365594
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