PMID- 19929927 OWN - NLM STAT- MEDLINE DCOM- 20100423 LR - 20221207 IS - 1440-1746 (Electronic) IS - 0815-9319 (Linking) VI - 25 IP - 2 DP - 2010 Feb TI - Prevalence, human leukocyte antigen typing and strategy for screening among Asian first-degree relatives of children with celiac disease. PG - 319-24 LID - 10.1111/j.1440-1746.2009.06044.x [doi] AB - BACKGROUND AND AIM: Data on prevalence, human leukocyte antigen (HLA) typing and small bowel histology among first-degree relatives of subjects with celiac disease (CD) is scarce. This prospective study evaluated the prevalence and role of HLA DQ2/8 testing in screening of first-degree relatives of children with CD. METHODS: Thirty confirmed children with CD and 91/94 first-degree relatives (parents and siblings) were enrolled. HLA DQ2/8 testing was carried out in all index CD cases. Clinical evaluation with a questionnaire, total serum immunoglobulin A (IgA), human IgA-tissue transglutaminase (IgA-tTGA) and HLA DQ2/8 testing was carried out in all first-degree relatives. Subjects who were positive for IgA-tTGA were recommended endoscopic duodenal biopsy to document histological changes of CD. RESULTS: Nine first-degree relatives were positive for IgA-tTGA, seven underwent duodenal biopsy and four subjects had Marsh IIIa changes suggestive of CD. The prevalence of histologically confirmed CD in first-degree relatives was 4.4%. The prevalence of potential CD was 9.8%. IgA-tTGA-positive subjects (4/9) were significantly more often symptomatic than IgA-tTGA-negative first-degree relatives (2/82). Twenty-nine (96.6%) index cases of CD and all IgA-tTGA-positive first-degree relatives were positive for HLA DQ2. None of the index CD cases or first-degree relatives were HLA DQ8-positive. A total of 85% of the first-degree relatives were positive for HLA DQ2 and thus at risk of developing CD. CONCLUSIONS: In this first Asian study on a limited number of families of children with CD, 4.4% of the first-degree relatives had CD. Only 15% of the first-degree relatives were negative for HLA DQ2/DQ8. Initial evaluation with HLA and serology followed by only serial serology in HLA-positive relatives is recommended. FAU - Srivastava, Anshu AU - Srivastava A AD - Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. FAU - Yachha, Surender Kumar AU - Yachha SK FAU - Mathias, Amrita AU - Mathias A FAU - Parveen, Farah AU - Parveen F FAU - Poddar, Ujjal AU - Poddar U FAU - Agrawal, Suraksha AU - Agrawal S LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20091119 PL - Australia TA - J Gastroenterol Hepatol JT - Journal of gastroenterology and hepatology JID - 8607909 RN - 0 (Autoantibodies) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ2 antigen) RN - 0 (HLA-DQ8 antigen) RN - EC 2.3.2.13 (Transglutaminases) SB - IM MH - Adolescent MH - Adult MH - Asian People/*genetics MH - Autoantibodies/blood MH - Biopsy MH - Celiac Disease/*diagnosis/ethnology/genetics/immunology/pathology MH - Child MH - Child, Preschool MH - Duodenoscopy MH - Female MH - HLA-DQ Antigens/*blood MH - *Histocompatibility Testing MH - Humans MH - India/epidemiology MH - Male MH - Mass Screening/*methods MH - Middle Aged MH - Pedigree MH - Predictive Value of Tests MH - Prevalence MH - Prospective Studies MH - Risk Factors MH - Surveys and Questionnaires MH - Transglutaminases/immunology EDAT- 2009/11/26 06:00 MHDA- 2010/04/24 06:00 CRDT- 2009/11/26 06:00 PHST- 2009/11/26 06:00 [entrez] PHST- 2009/11/26 06:00 [pubmed] PHST- 2010/04/24 06:00 [medline] AID - JGH6044 [pii] AID - 10.1111/j.1440-1746.2009.06044.x [doi] PST - ppublish SO - J Gastroenterol Hepatol. 2010 Feb;25(2):319-24. doi: 10.1111/j.1440-1746.2009.06044.x. Epub 2009 Nov 19.