Celiac Disease Diagnosis in Misdiagnosed Children

Abstract

Antiendomysial antibodies (EMA) are today considered the most sensitive and specific serological marker of celiac disease (CD). The aim of the present study was to assess the occurrence of EMA of IgG isotype in EMA IgA negative children with clinical suspicion of malabsorption and their relationship with CD. Serum EMA IgG1 determination was performed on 30 EMA IgA negative children with clinical suspicion of CD. Total serum IgA levels were further investigated. Sixty children with gastroenterological diseases other than CD were used as control disease patients and 63 healthy children were evaluated as the control group. Eighteen out of 30 children in the study showed EMA IgG1 positivity in sera and a villous height/crypt depth ratio Ͻ3:1 as index of intestinal atrophy. It is noticeable that a selective IgA deficiency was present in only 9 of 18 EMA IgG1 positive children. In addition, clinical symptoms, EMA IgG1, and mucosal atrophy disappeared after 8 -10 mo on a gluten-free diet. Neither EMA IgA nor EMA IgG1 were detected in the children in the control groups. The other 12 children in study group showed no histologic abnormalities and were EMA IgG1 negative. In this study, we reveal a group of EMA IgG1 CD children without IgA deficiency. The diagnosis was based on the presence of gluten-dependent typical serological and histologic features of CD. Our data suggest that EMA IgG1 determination could be a new tool in the diagnostic workup of CD, useful in avoiding possible misdiagnosis. Abbreviations CD, celiac disease EGDS, esophagogastroduodenoscopy EMA, antiendomysial antibodies AGA, antigliadin antibodies IgG1, immunoglobulins, G1 subclass GFD, gluten-free diet CD is a lifelong gluten intolerance characterized by villous flattening with crypt hyperplasia of the small bowel mucosa and improvement or normalization of the mucosal architecture after a GFD (1). The presence of circulating EMA, highly sensitive and specific for CD (2-5), and their disappearance after a GFD confirms the diagnosis (6). Therefore, EMA IgA are today accepted as a reliable and noninvasive screening test for CD. Moreover, a recent study reported the presence of EMA of IgG isotype only in celiac children with selective IgA deficiency (7). These authors reported a low prevalence of AGA in these celiac children, suggesting the need to use different serological tests to reveal CD in the presence of IgA deficiency.The aim of our study was to evaluate the occurrence of EMA IgG and their relationship to CD in a group of EMA IgA negative children with total or subtotal intestinal atrophy. MATERIALS AND METHODSSubjects. Thirty EMA IgA negative children (12 males and 18 females, mean age 10.6, range 2-16 y) with clinical suspicion of CD were enrolled in the study as the patient group.Sixty children (27 males and 33 females, mean age 11.3, range 4 -16 y) with gastroenterological diseases other than CD (17 lactose intolerance, 3 cow's milk intolerance, 15 esophagitis, and 25 infectious diarrhea) were selected as the disease control group.Sixty-three ...

Antiendomysial Antibody Detection in Biopsy Culture Allows Avoidance of Gluten Challenge in Celiac Children

“…As recently reported, celiac disease, in children as well as in adults, can also occur in the absence of IgA EMA but the presence of IgG1 EMA both in sera and in culture supernatants (17,18,25). Results from the present study confirm these data.…”

“…EMA of the IgA isotype was measured both in sera and culture supernatants in all patients studied, whereas EMA of the IgG1 isotype was measured only in patients with negative IgA EMA results (17,18) (Table 2). EMA, both IgA and IgG1 isotypes, was measured in sera diluted 1:5 and in undiluted biopsy culture supernatants by means of indirect immunofluorescence analysis on cryostat sections of monkey esophagus (Eurospital, Trieste, Italy).…”

Prevalence of Celiac Disease in Brazilian Children with Type 1 Diabetes Mellitus

“…For IgA-class antibodies, sensitivity ranges from 56.5% to 100% and specificity from 22.2% to 100%. For IgG-class, reported sensitivity ranges from 33.3% to 100% and specificity from 58.3% to 98% (24)(25)(26)(27). Differences in the studied populations and methodology used in the analysis would explain such variations (28).…”

Role of anti-tissue transglutaminase IgA+IgG antibodies in detection of potential celiac disease in patients with type 1 diabetes

“…Although detection of tTG IgA is widely accepted for the diagnosis of CD, and IgG is only used in individuals with IgA deficiency, in our study when tTG IgA+IgG was tested in the asymptomatic patients, 37 patients were detected positive1819. Picarelli et al 20 have also shown that anti-EMA IgG1 antibody detection increases the prevalence of CD in T1D patients.…”