Prevalence, human leukocyte antigen typing and strategy for screening among Asian first-degree relatives of children with celiac disease.
OBJECTIVE
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.
Srivastava
Anshu
A
Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Yachha
Surender Kumar
SK
Mathias
Amrita
A
Parveen
Farah
F
Poddar
Ujjal
U
Agrawal
Suraksha
S
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001323:Autoantibodies / Q000097:blood; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics / Q000276:immunology / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004384:Duodenoscopy; D005260:Female; D006683:HLA-DQ Antigens / Q000097:blood*; D006650:Histocompatibility Testing; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D010375:Pedigree; D011237:Predictive Value of Tests; D015995:Prevalence; D011446:Prospective Studies; D012307:Risk Factors; D011795:Surveys and Questionnaires; D011503:Transglutaminases / Q000276:immunology
D001323:Autoantibodies; D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen; D011503:Transglutaminases