Mistakes in coeliac disease diagnosis and how to avoid them

Filters:

UEG Mistakes In Articles

Share via Email Share on Facebook Share on X Share on LinkedIn Share on Bluesky

This content is part of Gutflix. Log in with your myUEG account, or create one free, to watch it.

Not sure what you can access? Learn more about account types.

Mistakes in coeliac disease diagnosis and how to avoid them

Roberto De Giorgio 1, Giacomo Caio 1, Umberto Volta 1

Affiliations

1 University of Bologna, Italy

Summary

AI Generated

Coeliac disease is an autoimmune disorder triggered by gluten in genetically predisposed individuals, with a worldwide prevalence of 1%, though most patients remain undiagnosed despite available biomarkers.

Small intestinal biopsy remains the gold standard for coeliac disease diagnosis.
The disease is linked to HLA DQ2 and DQ8 haplotypes and involves an immune reaction against tissue transglutaminase (TG2).
Biomarkers including endomysial antibodies and anti-TG2 antibodies have changed coeliac disease from a rare to a frequent condition.
Symptoms vary widely between patients, and the majority of those with coeliac disease remain undiagnosed.
Delayed diagnosis in the elderly is a risk factor for complications, and complicated coeliac disease carries a very poor prognosis with low 5-year survival.

Download PDF

Was this helpful?

Thanks for your feedback.

This summary was generated by an AI large language model based on the content transcript. It is for informational purposes only and should not be considered a substitute for clinical judgment. Always rely on your professional expertise and the full clinical context when making clinical decisions.

References

Mistakes

References

Mistake 1 Mistake 2 Mistake 3 Mistake 4 Mistake 5 Mistake 6 Mistake 7 Mistake 8 Mistake 9 Mistake 10

Al-Toma A, Volta U, Auricchio R, et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J 2019; 7: 583-613. [Link]

Biagi F, Gobbi P, Marchese A, et al. Low incidence but poor prognosis of complicated coeliac disease: a retrospective multicentre study. Dig Liver Dis 2014; 46: 227–230. [Link]

Ludvigsson JF, Bai JC, Biagi F, et al. Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology. Gut 2014; 63: 1210–1228. [Link]

Villanacci V, Ceppa P, Tavani E, et al. Coeliac disease: the histology report. Dig Liver Dis 2011; 43 (Suppl 4): S385–S395. [Link]

Brown I, Mino-Kenudson M, Deshpande V, et al. Intraepithelial lymphocytosis in architecturally preserved proximal small intestinal mucosa: an increasing diagnostic problem with a wide differential diagnosis. Arch Pathol Lab Med 2006; 130: 1020–1025. [Link]

Rubio-Tapia A, Hill ID, Semrad C, et al. American College of Gastroenterology Guidelines update: Diagnosis and management of celiac disease. Am J Gastroenterol 2023; 118: 59-76. [Link]

Salmi TT, Collin P, Järvinen O, et al. Immunoglobulin A autoantibodies against transglutaminase 2 in the small intestinal mucosa predict forthcoming coeliac disease. Aliment Pharmacol Ther 2006; 24: 541–552. [Link]

Murray JA and Rubio-Tapia A. Diarrhoea due to small bowel diseases. Best Pract Res Clin Gastroenterol 2012; 26: 581–600. [Link]

Scialom S, Malamut G, Meresse B, et al. Gastrointestinal disorder associated with olmesartan mimics autoimmune enteropathy. PLoS One 2015 23; 10: e0125024. [Link]

10.

Volta U, Caio G, Stanghellini V, et al. The changing clinical profile of celiac disease: a 15-year experience (1998-2012) in an Italian referral center. BMC Gastroenterol 2014; 14: 194. [Link]

11.

Volta U, Rostami K, Auricchio R, Lundin KEA. Diagnosis of seronegative and ultrashort celiac disease. Gastroenterology 2024; S0016-5085(24)00067-2. Epub ahead of print [Link]

12.

Wolters VM and Wijmenga C. Genetic background of celiac disease and its clinical implications. Am J Gastroenterol 2008; 103: 190–195. [Link]

13.

(#ref13)Wang N, Truedsson L, Elvin K, et al. Serological assessment for celiac disease in IgA deficient adults. PLoS One 2014; 9: e93180. [Link]

14.

Villalta D, Tonutti E, Prause C, et al. IgG antibodies against deamidated gliadin peptides for diagnosis of celiac disease in patients with IgA deficiency. Clin Chem 2010; 56: 464–468. [Link]

15.

Volta U, Granito A, Fiorini E, et al. Usefulness of antibodies to deamidated gliadin peptides in celiac disease diagnosis and follow-up. Dig Dis Sci 2008; 53: 1582–1588. [Link]

16.

Hadjivassiliou M, Sanders DS, Grünewald RA, et al. Gluten sensitivity: from gut to brain. Lancet Neurol 2010; 9: 318–330. [Link]

17.

van Gils T, Nijeboer P, van Wanrooij RL, et al. Mechanisms and management of refractory coeliac disease. Nat Rev Gastroenterol Hepatol 2015; 12: 572–579. [Link]

18.

Leffler DA, Dennis M, Hyett B, et al. Etiologies and predictors of diagnosis in nonresponsive celiac disease. Clin Gastroenterol Hepatol 2007; 5: 445–450. [Link]

Abstract

Coeliac disease is an autoimmune disorder triggered by gluten, which activates an immune reaction against the autoantigen tissue transglutaminase (TG2) in genetically predisposed subjects. Genetic susceptibility to coeliac disease has been proven by its close linkage with major histocompatibility complex (MHC) class II human leukocyte antigen (HLA) DQ2 and DQ8 haplotypes. The identification of biomarkers for coeliac disease (e.g. endomysial antibodies [EmA] and antibodies to TG2 [anti-TG2]) has changed the epidemiology of coeliac disease from being a rare to a frequent condition, with an expected prevalence of 1% in the worldwide population. Coeliac disease can be difficult to diagnose because symptoms vary from patient to patient, and the majority of patients who have coeliac disease remain undiagnosed. Small intestinal biopsy remains the gold standard for coeliac disease diagnosis, and a delayed diagnosis in the elderly can be considered a risk factor for complications. Complicated coeliac disease is not so frequent, but for those who have it, the prognosis is very poor, with a low rate of survival after 5 years.

Topics

Small Intestine & Nutrition

Published

2024

More Like This:

MASLD with Sven Francque - Part 2

Pradeep Mundre

Mistakes in abdominal distension and how to avoid them

Alberto Ezquerra-Durán

Mistakes in ostomy management and how to avoid them

Ian White

Management of gastric preneoplastic lesions (MAPS 3) - what’s new? With Mario Dinis-Ribeiro (Part 2)

Pradeep Mundre

Mistakes in gastroparesis and how to avoid them

Asma Fikree

Mistakes in rumination syndrome and how to avoid them

Elizabeth Barba Orozco

UEG Podcast Episode

UEG Podcast

Share via Email Share on Facebook Share on X Share on LinkedIn Share on Bluesky

This content is part of Gutflix. Log in with your myUEG account, or create one free, to watch it.

Not sure what you can access? Learn more about account types.