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Clinical features of celiac disease: a prospective birth cohort
Daniel Agardh1, Hye-Seung Lee2, Kalle Kurppa3
1The Diabetes and Celiac Disease Unit, Department of Clinical Sciences, Lund University, Malmo, Sweden; Pediatric Epidemiology Center, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, Florida; daniel.agardh@med.lu.se.
Insights
Most children screened for celiac disease (CD) with positive tissue transglutaminase antibodies (tTGA) are asymptomatic and grow normally. Higher tTGA levels correlate with more severe intestinal damage, especially in symptomatic children.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Genetics
Background:
- Celiac disease (CD) is an autoimmune disorder triggered by gluten ingestion.
- Genetic predisposition, particularly HLA-DQ2/DQ8 genotypes, plays a significant role in CD development.
- Early detection and understanding of clinical manifestations in at-risk populations are crucial.
Purpose of the Study:
- To investigate the clinical features of celiac disease (CD) in a genetic risk birth cohort.
- To examine the association between CD symptoms and various risk factors.
- To correlate antibody levels and intestinal mucosal damage.
Main Methods:
- Annual screening for tissue transglutaminase antibodies (tTGA) in children with HLA-DQ2/DQ8.
- Assessment of clinical symptoms using questionnaires.
- Analysis of associations between symptoms, risk factors, tTGA levels, and biopsy-confirmed mucosal lesions.
Main Results:
- Of 6706 screened children, 340 were diagnosed with CD.
- Children with persistent positive tTGA were more likely to be symptomatic at ages 2 and 3, but not at age 4.
- tTGA levels correlated with mucosal lesion severity, particularly in symptomatic children.
Conclusions:
- The majority of children identified with persistent tTGA are asymptomatic and exhibit normal growth by age 4.
- tTGA levels serve as a biomarker for intestinal damage severity in celiac disease.
- Family history of CD is associated with symptomatic presentation in children with positive tTGA.
Objectives:
To investigate clinical features of celiac disease (CD) and their association with risk factors for CD in a genetic risk birth cohort.
Methods:
Children from 6 clinical centers in 4 countries positive for HLA-DR3-DQ2 or DR4-DQ8 were annually screened for tissue transglutaminase antibodies (tTGA) and assessed for symptoms by questionnaires. Associations of symptoms with anthropometrics, known risk factors for CD, tTGA levels, and mucosal lesions in those biopsied were examined.
Results:
Of 6706 screened children, 914 developed persistent positive tTGA, 406 underwent biopsies, and 340 had CD. Compared with age-matched tTGA-negative children, those with persistent tTGA were more likely to have symptoms at 2 (34% vs 19%, P < .001) and 3 years of age (28% vs 19%, P = .009) but not at 4 years (27% vs 21%, NS). Z-scores for height, weight, and BMI did not differ between groups. In children with persistent tTGA, having ≥ 1 symptom was associated with family history of CD (odds ratio = 2.59, 95% confidence interval, 1.21-5.57) but not with age, gender, or HLA-DR3-DQ2 homozygosity. At seroconversion, tTGA levels were higher in symptomatic than asymptomatic children (P < .001), in those from CD families (P < .001), and in US participants (P < .001) but not associated with age, gender, or HLA genotype. tTGA levels correlated with severity of mucosal lesions both in symptomatic (r = 0.53, P < .001) and asymptomatic children (r = 0.22, P = .01).
Conclusions:
A majority of children detected with persistent tTGA in screenings are asymptomatic and have normal growth by age 4 years. tTGA levels correlate more strongly with severity of mucosal lesions in symptomatic as compared with asymptomatic children.
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