Related Experiment Video
Updated: Mar 20, 2026
Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
HLA Profile of Celiac Disease among First-Degree Relatives from a Tertiary Care Center in North India
Shilpy Singla1, Praveen Kumar2, Preeti Singh1
1Department of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, 110001, India.
Insights
First-degree relatives (FDR) of children diagnosed with Celiac disease (CD) have a significantly higher prevalence of CD. Targeted screening of seropositive FDR, especially those with anemia or short stature, is recommended.
Area of Science:
- Gastroenterology
- Genetics
- Pediatrics
Background:
- Celiac disease (CD) is an autoimmune disorder triggered by gluten ingestion.
- First-degree relatives (FDR) of individuals with CD have an increased genetic predisposition.
- Early diagnosis and management of CD in FDR can prevent long-term complications.
Purpose of the Study:
- To determine the prevalence of Celiac disease (CD) among first-degree relatives (FDR) of children diagnosed with CD.
- To assess the utility of screening methods and HLA typing in identifying CD in FDR.
Main Methods:
- An observational study involving FDR (parents and siblings) of newly diagnosed pediatric CD cases.
- Screening using serum IgA tissue transglutaminase (tTG) antibody levels.
- Confirmation of CD through upper gastrointestinal endoscopy and biopsy for seropositive individuals; HLA DQ2/DQ8 analysis was also performed.
Main Results:
- Of 202 FDR, 17.3% were seropositive for IgA tTG.
- Biopsy-proven CD was diagnosed in 10.2% of children and 8.1% of adults within the FDR group.
- HLA DQ2/DQ8 was positive in 96.7% of index cases and all FDR with confirmed CD.
Conclusions:
- The prevalence of CD in FDR is approximately nine times higher than in the general population.
- Targeted screening of seropositive FDR, particularly those with anemia or short stature, is warranted.
- The absence of HLA DQ2/DQ8 makes CD unlikely.
Objective:
To study the prevalence of Celiac disease (CD) in first-degree relatives (FDR) of CD children.
Methods:
This observational study was performed in FDR (parents and siblings) of consecutive newly diagnosed cases of CD enrolled from January 2011 through March 2012. Screening for CD in FDR was done using IgA tissue transglutaminase (tTG) levels in serum and the seropositive subset underwent upper gastrointestinal (UGI) endoscopy and biopsy to confirm the disease. In addition, HLA analysis for CD was performed in most of the index cases and FDR.
Results:
Of 202 FDR of the 64 index cases with CD, 17.3 % (35/202) were seropositive for IgA tTG while confirmed biopsy proven CD was diagnosed in 10.2 % (8/78) of children and 8.1 % (10/124) of adults. HLA DQ2/DQ8 was positive in 96.7 % of the index cases and all FDR with confirmed CD.
Conclusions:
The prevalence of CD among FDR is 9 fold higher than the general population. High prevalence of CD in presence of anemia and short stature in seropositive FDR in index study indicates need of targeted screening of this subgroup for the presence of CD.CD is unlikely in the absence of HLADQ2/DQ8.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
01:30Peptic Ulcer Disease I: Introduction
An acute ulcer, marked by superficial erosion and minimal inflammation, swiftly resolves upon identifying and addressing the underlying cause. In contrast, a chronic ulcer persists, potentially eroding through the muscular wall and forming fibrous tissue.
Peptic ulcers can also be...