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Coeliac disease: making the diagnosis
  1. R Mark Beattie,
  2. Akshay Batra
  1. Paediatric Gastroenterology, Southampton Children's Hospital, Southampton, UK
  1. Correspondence to Dr R Mark Beattie, Paediatric Gastroenterology, Southampton Children's Hospital, Southampton SO16 6YD, UK; mark.beattie{at}uhs.nhs.uk

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Key points

  • Coeliac disease is common with a lifetime prevalence in screened populations of 1%.

  • For diagnostic testing, patients need to be on a normal, gluten-containing diet.

  • Initial testing is by serology—if the serum titre of IgA antibodies against tissue transglutaminase 2 (TGA-IgA) is >10 times the upper limit of normal—repeatantibody testing and potentially confirm the diagnosis without a biopsy.

  • This is applied to all patients whether symptomatic or picked up through high-risk screening.

  • Human leucocyte antigen testing has no role.

  • Biopsy is required in children with positive serology, where TGA-IgA is <10 times the upper limit of normal.

  • Biopsy is indicated for diagnosis in cases of IgA deficiency.

  • Treatment is lifelong gluten exclusion.

  • Cases who test negative can still develop the condition later.

  • Diagnosis should be made by a clinician with expertise in the condition and include a plan for dietetic input and follow-up.

Coeliac disease (CD) is a systemic, immune-mediated disorder precipitated by gluten and related prolamins. It is characterised by gut enteropathy. It can manifest at any age after weaning (6 months onwards). The estimated lifetime prevalence is around 1% when populations are screened, although significantly fewer are diagnosed. This partly reflects the wide range of presenting symptoms—gastrointestinal, non-gastrointestinal and occult—and many of the cases picked up on screening are asymptomatic at presentation. Other factors include gluten restriction before diagnosis, diagnostic overshadowing whereby the condition is not considered when other conditions are present and the fact that cases can test negative and then develop the condition later. This last issue makes the implementation of population screening complex …

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Footnotes

  • Contributors Both authors contributed equally to the manuscript. RMB is the guarantor for the paper.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned; internally peer reviewed.

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