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CASE REPORT
Seronegative enteropathy and malnutrition: a diagnostic challenge
  1. James McCulloch1,
  2. Miriam Barclay2,
  3. Adam Levene3,
  4. Robert Fearn4
  1. 1Emergency Department, The Tweed Hospital, Tweed Heads, New South Wales, Australia
  2. 2Department of Obstetrics and Gynaecology, Colchester Hospital University NHS Foundation Trust, Colchester, UK
  3. 3Department of Histopathology, Luton and Dunstable University Hospital, Luton, United Kingdom
  4. 4Department of Gastroenterology, Homerton University Hospital NHS Foundation Trust, London, United Kingdom
  1. Correspondence to Dr Robert Fearn, robert.fearn{at}nhs.net

Summary

A 21-year-old woman presented with a 2-week history of vomiting, diarrhoea and epigastric pain, with 9 kg weight loss over the last two months. Laboratory tests were normal with negative coeliac serology. Duodenal biopsies revealed total villous atrophy, crypt hypertrophy and intraepithelial lymphocytosis. A diagnosis of seronegative coeliac disease was made, and she started a gluten-free diet. However, she did not respond and her weight fell to 30.6 kg (body mass index 11), becoming dependent on parenteral nutrition. Her diagnosis was reconsidered and the histology reviewed. The histopathological features were of severe active chronic duodenitis. By diagnosis of exclusion, with the absence of other clear pathology, she was treated as Crohn’s disease. She responded to third-line therapy with biologics. In this case, the patient had refractory villous atrophy and the mucosal features, in addition to response with anti-tumour necrosis factor therapy, suggest inflammatory bowel disease, although not with complete diagnostic certainty.

  • gastrointestinal system
  • crohn’s disease
  • malabsorption
  • malnutrition
  • parenteral / enteral feeding

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Footnotes

  • Contributors JEM collected the data, analysed the data and drafted the bulk of the case report, including adding revisions. MB contributed to the discussion. RF is the senior author and corresponding author who began the case report and made critical revisions for the final version. AL contributed to the critical revisions.

  • 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 Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.