Serological screening for coeliac disease in adults with Turner's syndrome: prevalence and clinical significance of endomysium antibody positivity

ObjectiveTo investigate the prevalence of coeliac disease (CD) in an adult population with Turner's syndrome (TS).DesignA clinic population with TS was screened using a serological test for CD.MethodsTwo hundred and fifty six patients with TS were included in the study. Five patients had existing diagnoses of CD. The remaining 251 asymptomatic patients were screened using an IgA endomysium antibody (EMA) test. Positive cases were offered endoscopy with duodenal biopsy. HLA typing was undertaken in existing cases and new EMA-positive cases.ResultsOf the 251 patients screened, eight were found to be EMA positive (3.2%). Seven patients proceeded to duodenal biopsy on which all were confirmed histologically to have CD (2.8%). The prevalence of subclinical CD in the population can therefore be estimated between 2.8 and 3.2%. The total population prevalence of CD, including the previously diagnosed cases, is estimated between 4.7 and 5.1%. Ten patients with histologically confirmed CD underwent HLA typing of which eight were HLA-DQ2 positive, one was HLA-DQ8 positive and one was negative to both HLA-DQ2 and HLA-DQ8.ConclusionsThis study demonstrates an increased prevalence of CD in an adult population with TS over the general population. This is consistent with previous data published in paediatric populations.