Coeliac disease is a systemic disorder characterized by immune-mediated enteropathy, which is caused by gluten ingestion in genetically susceptible individuals. The clinical presentation of coeliac disease is highly variable and ranges from malabsorption through solely extra-intestinal manifestations to asymptomatic. As a result, the majority of patients with coeliac disease remain undiagnosed, misdiagnosed or experience a substantial delay in diagnosis. Coeliac disease is diagnosed by a combination of serological findings of disease-related antibodies and histological evidence of villous abnormalities in duodenal biopsy samples. However, variability in histological grading and in the diagnostic performance of some commercially available serological tests remains unacceptably high and confirmatory assays are not readily available in many parts of the world. Currently, the only effective treatment for coeliac disease is a lifelong, strict, gluten-free diet. However, many barriers impede patients’ adherence to this diet, including lack of widespread availability, high cost, cross-contamination and its overall restrictive nature. Routine follow-up is necessary to ensure adherence to a gluten-free diet but considerable variation is evident in follow-up protocols and the optimal disease management strategy is not clear. However, these challenges in the diagnosis and management of coeliac disease suggest opportunities for future research.
Coeliac disease is a global disease with a worldwide prevalence of around 1%.
Most patients with coeliac disease are undiagnosed, misdiagnosed and/or experience a substantial delay in diagnosis, which suggests an inadequate awareness of the spectrum of its clinical manifestations.
Despite improvements in the diagnosis of coeliac disease, persistent challenges include high inter-assay and intra-assay variation in serological test performance and high inter-observer variability in the grading of villous abnormalities.
The optimal follow-up strategy for coeliac disease is unclear and studies are needed to define the timing and role of serological testing, gluten immunogenic peptide measurement and repeat biopsy.
Increased access to dietitians, improved tools to assess adherence to a gluten-free diet, increased availability of gluten-free foods and reduced gluten contamination of gluten-free food products are needed.
As maintaining strict adherence to a gluten-free diet is restrictive and challenging, the development of adjunct or alternative non-dietary therapies for coeliac disease is crucial.
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C.C. declares that he has acted as a scientific consultant for Dr Schär Food (a gluten-free diet manufacturer), Nóos and Takeda. D.S.S. declares that he has received consultancy fees and an educational grant from Dr Schär Food. D.L. declares that he has received salary support from Takeda. J.C.B. declares that he has acted as a scientific consultant for Innovate, Proventionbio and Takeda. G.K.M., P.S. and R.A.R.A. declare no competing interests.
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The storage proteins of wheat (gliadins and glutenins), rye (secalins), barley (hordeins) and oats (avenins), which are composed of prolamin and glutelin moieties.
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Makharia, G.K., Singh, P., Catassi, C. et al. The global burden of coeliac disease: opportunities and challenges. Nat Rev Gastroenterol Hepatol 19, 313–327 (2022). https://doi.org/10.1038/s41575-021-00552-z