4% The prevalence of potential CD was 98% IgA-tTGA-positive su

4%. The prevalence of potential CD was 9.8%. IgA-tTGA-positive subjects (4/9) were significantly more often symptomatic LY2157299 concentration 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. Celiac disease (CD) results from a dysregulated

immune response to dietary wheat gluten and related cereal proteins.1 The disease has a strong hereditary component and the primary association is with HLA MAPK inhibitor alleles encoding HLA DQ2 and HLA DQ8.2,3 Family members of subjects with CD constitute a high-risk group. Family members may have atypical or silent CD that may remain undiagnosed, resulting in complications and thereby contributing to morbidity and mortality.4,5 Therefore, this high-risk group of first-degree relatives warrants identification and early institution of dietary therapy. Celiac serology and/or HLA testing have been used to identify high-risk first-degree relatives. Immunoglobulin A-tissue transglutaminase antibody (IgA-tTGA) is widely used for screening for CD. Subjects

need repeated testing over years as some first-degree relatives who initially test negative may later become positive and may have histology suggestive check details of CD.6 Therefore, serological screening has the limitations of not being a one-point test and has a lower sensitivity in patients with less severe histological changes.7 HLA DQ2/8 testing has a high sensitivity but a low specificity. HLA DQ2/8 testing has the distinct advantage of segregating the first-degree relatives into two main groups: (i) those at risk of developing CD (HLA DQ2/DQ8-positive) and thus needing regular monitoring; and (ii) those unlikely to develop CD (HLA DQ2/DQ8-negative) and thus not needing repeated serology testing.8,9 The importance of HLA DQ2/8 testing lies in demonstrating its negativity as a once per life-time test. Nearly 2.8–18%10–13 of first-degree relatives are reported to be affected by CD. The main reasons for wide variation in the prevalence rates of the earlier studies are due to: (i) partial enrollment of the first-degree relatives; (ii) inclusion of first-degree relatives of families with single and multiple CD cases; (iii) inclusion of first- and second-degree relatives together; (iv) lack of histological confirmation of the diagnosis of CD in the index case,14 and (v) use of different screening methods of serology and/or small intestinal mucosal biopsy.

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