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

Department of Endocrinology, University College Hospital, 250 Euston Road, London NW1 2QP, UK

(Correspondence should be addressed to G S Conway; Email: gerard.conway{at}uclh.nhs.uk)

Objective: To investigate the prevalence of coeliac disease (CD) in an adult population with Turner's syndrome (TS).

Design: A clinic population with TS was screened using a serological test for CD.

Methods: Two 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.

Results: Of 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 cluster of differentiation (2.8%). The prevalence of subclinical cluster of differentiation 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 cluster of differentiation 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.

Conclusions: This study demonstrates an increased prevalence of cluster of differentiation in an adult population with TS over the general population. This is consistent with previous data published in paediatric populations.