Clinical Features of Celiac Disease: A Prospective Birth Cohort

Abstract

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).

Prevalence and associated factors of abnormal liver values in children with celiac disease

“…In contrast, an older paediatric study found no such association, but it involved only 27 children [45]. We also detected an association between high autoantibody values and increased ALT, which is in line with the known correlation between serology and histology in celiac disease [46]. However, there is also evidence to indicate that the antibodies might in fact participate in the pathogenesis [10,11,47].…”

Coeliac patients detected during type 1 diabetes surveillance had similar issues to those diagnosed on a clinical basis

“…This was in line with studies carried out in patients detected by other types of atrisk group screenings, for example first-degree relatives of coeliac disease patients (13,19). It also demonstrates that these individuals were very often not asymptomatic, just unrecognised.…”

At-Risk Screened Children with Celiac Disease are Comparable in Disease Severity and Dietary Adherence to Those Found because of Clinical Suspicion: A Large Cohort Study

“…In line with this, other recent studies conducted among screened children and adults have shown up to 34-84% of such patients to suffer from symptoms unrecognized at the time of the celiac disease diagnosis. 11,15,31,32 These findings demonstrate that symptom-based case finding is too inefficient to detect a large part of even children with classical gastrointestinal presentation, let alone those who present with atypical or subtle symptoms. What is more, most of the above mentioned pediatric screening studies have been conducted in Finland and other Nordic countries, where the disease is fairly well-known among pediatricians and primary care physicians, 15,32 and in many other countries the situation might be even poorer.…”

“…11,15,31,32 These findings demonstrate that symptom-based case finding is too inefficient to detect a large part of even children with classical gastrointestinal presentation, let alone those who present with atypical or subtle symptoms. What is more, most of the above mentioned pediatric screening studies have been conducted in Finland and other Nordic countries, where the disease is fairly well-known among pediatricians and primary care physicians, 15,32 and in many other countries the situation might be even poorer. For example, in the USA only 17% of all celiac disease patients were aware of their disorder before population screening, 33 and such underdiagnosing has also been observed in New Zealand and Australia.…”