Life-threatening onset of coeliac disease: a case report and literature review

BMJ Open Gastroenterol. 2020 May;7(1):e000406. doi: 10.1136/bmjgast-2020-000406.

Abstract

Background: Coeliac disease (CD) results from an immune-mediated reaction to gluten in genetically predisposed individuals. In rare cases CD may occur with acute features deferring the diagnosis and exposing these patients to possible life-threatening complications. Herein we present the case of a young woman with a coeliac crisis, that is, a sudden clinical onset characterised by severe electrolyte imbalance due to an unknown (previously unrecognised) CD.

Methods: This is a case report and literature review revealing that coeliac crisis is under-reported, with a total of 48 adult cases so far published. The diagnosis in our case was established by histopathological analysis of multiple duodenal biopsies. The patient's serum was tested by enzyme-linked immunoassay to detect antitransglutaminase IgA antibodies.

Results: In contrast to cases reported in the literature, with male gender predominance and a mean age of 50±17 years, our patient was a young female case of coeliac crisis. However, like in our patient, a higher incidence of coeliac crisis was associated with the human leucocyte antigen (HLA)-DQ2 haplotype, versus HLA-DQ8, and a severe (Marsh-Oberhüber 3c) duodenal mucosa atrophy. Notably, there is no clear correlation between the antitissue transglutaminase 2 IgA antibody titre and coeliac crisis onset/severity, as confirmed by our case report.

Conclusions: The present case highlights that CD may manifest quite abruptly with a severe malabsorption syndrome, that is, electrolyte abnormalities and hypoproteinaemia. Our case should alert physicians, in particular those in the emergency setting, that even a typically chronic disorder, such as CD, may show life-threatening complications requiring urgent management.

Keywords: coeliac disease; diarrhoea; gluten-free diet; intestinal failure; malabsorption.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Aged
  • Atrophy / diagnosis
  • Biopsy
  • Celiac Disease / complications
  • Celiac Disease / diagnosis*
  • Celiac Disease / diet therapy
  • Celiac Disease / genetics*
  • Diet, Gluten-Free / methods
  • Duodenum / pathology
  • Female
  • GTP-Binding Proteins / immunology
  • HLA-DQ Antigens / metabolism
  • Haplotypes
  • Humans
  • Hypoproteinemia / etiology*
  • Immunoglobulin A / immunology
  • Malabsorption Syndromes / etiology*
  • Male
  • Middle Aged
  • Mucous Membrane / pathology
  • Protein Glutamine gamma Glutamyltransferase 2
  • Severity of Illness Index
  • Transglutaminases / immunology
  • Treatment Outcome

Substances

  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • Immunoglobulin A
  • Protein Glutamine gamma Glutamyltransferase 2
  • Transglutaminases
  • GTP-Binding Proteins