Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
, 148 (6), 1175-86

Advances in Diagnosis and Management of Celiac Disease

Affiliations
Review

Advances in Diagnosis and Management of Celiac Disease

Ciarán P Kelly et al. Gastroenterology.

Abstract

Celiac disease is an autoimmune disorder that is induced by dietary gluten in genetically predisposed individuals. It has a prevalence of approximately 1% in many populations worldwide. New diagnoses have increased substantially, owing to increased awareness, better diagnostic tools, and probable real increases in incidence. The breadth of recognized clinical presentations continues to expand, making the disorder highly relevant to all physicians. Newer diagnostic tools, including serologic tests for antibodies against tissue transglutaminase and deamidated gliadin peptide, greatly facilitate diagnosis. Tests for celiac-permissive HLA-DQ2 and HLA-DQ8 molecules are useful in defined clinical situations. Celiac disease is diagnosed by histopathologic examination of duodenal biopsy specimens. However, according to recent controversial guidelines, a diagnosis can be made without a biopsy in certain circumstances, especially in children. Symptoms, mortality, and risk for malignancy each can be reduced by adherence to a gluten-free diet. This treatment is a challenge, however, because the diet is expensive, socially isolating, and not always effective in controlling symptoms or intestinal damage. Hence, there is increasing interest in developing nondietary therapies.

Keywords: Autoimmune; Cereal; Diet; Enteritis; Enteropathy; Gluten; Gluten-Free Diet; Lymphoma; Malabsorption; Nutritional Deficiency; Refractory; Serology; Villous Atrophy; Wheat.

Figures

Figure 1
Figure 1. Approach to celiac disease diagnosis. Serology is usually the first step in diagnosis or exclusion of celiac disease for symptomatic patients or for screening. Biopsy is important for definitive diagnosis. HLA testing is valuable in selected patients
Footnotes:

Serologic markers of celiac disease: IgA against tTG, Endomysial antibody (IgA), IgG against DGD, IgA against deamidated gliadin peptide, IgG against tTG.

A small number of patients with celiac disease have negative results from serologic tests. Biopsies should therefore be performed if the clinical suspicion for celiac disease is high, regardless of these results.

Tests for HLA DQ2 and DQ8 can be performed. Negative results mean that celiac disease can be permanently excluded. However, many individuals without celiac disease are carriers of these alleles—especially those with a family history of celiac disease or related autoimmune disorder.

For symptomless patients, especially children, with mild increases in serologic markers of disease, biopsy analysis can be delayed, pending results from serologic tests performed at intervals of 3–6 months.

Potential celiac disease has been defined as a normal small intestinal mucosa with an increased risk for celiac disease based on results from serologic analysis.

Figure 2
Figure 2. Evaluation of NRCD
Footnotes:

Confirm the diagnosis of celiac disease by reviewing findings from serologic tests (not anti-gliadin antibody tests) and small bowel histology findings. If patients tested negative for tTG and EMA antibodies, perform HLA DQ2 DQ8 typing.

Investigate other possible etiologies for clinical presentation and/or abnormal histology findings.

Increased serum levels of IgA against tTG indciate continued gluten ingestion as a cause

Non-celiac villous atrophy can be caused by intestinal infections (eg, giardiasis, small intestinal bacterial overgrowth, and viral enteritis, including HIV enteropathy), autoimmune enteropathy, hypogammaglobulinemia, as well as combined variable immunodeficiency, tropical sprue, Crohn' s disease, peptic duodenitis, or collagenous sprue.

Conditions that present as NRCD without villous atrophy include irritable bowel syndrome, microscopic colitis, food intolerances, small intestinal bacterial overgrowth, Crohn's disease, and microscopic colitis.

Aberrant small intestinal mucosal and intraepithelial lymphocytes in patients with RCD Type II can be identified by immunohistochemistry or flow cytometry (an excess of CD3+ cells without CD4 or CD8 surface proteins) or by T-cell receptor gene rearrangement analysis showing clonal expansion.

Adapted from references , ,

Similar articles

  • ACG clinical guidelines: diagnosis and management of celiac disease.
    Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology. Rubio-Tapia A, et al. Am J Gastroenterol. 2013 May;108(5):656-76; quiz 677. doi: 10.1038/ajg.2013.79. Epub 2013 Apr 23. Am J Gastroenterol. 2013. PMID: 23609613 Free PMC article.
  • [Adult Celiac Disease].
    Many N, Biedermann L. Many N, et al. Praxis (Bern 1994). 2016 Jul 6;105(14):803-10; quiz 809-12. doi: 10.1024/1661-8157/a002413. Praxis (Bern 1994). 2016. PMID: 27381303 Review. German.
  • Biomarkers for diagnosis and monitoring of celiac disease.
    Vives-Pi M, Takasawa S, Pujol-Autonell I, Planas R, Cabre E, Ojanguren I, Montraveta M, Santos AL, Ruiz-Ortiz E. Vives-Pi M, et al. J Clin Gastroenterol. 2013 Apr;47(4):308-13. doi: 10.1097/MCG.0b013e31827874e3. J Clin Gastroenterol. 2013. PMID: 23388848 Review.
  • [CELIAC DISEASE].
    Malamut G, Cellier C. Malamut G, et al. Rev Prat. 2015 Dec;65(10):1299-304. Rev Prat. 2015. PMID: 26979028 French.
  • Celiac disease in children.
    Garnier-Lengliné H, Cerf-Bensussan N, Ruemmele FM. Garnier-Lengliné H, et al. Clin Res Hepatol Gastroenterol. 2015 Oct;39(5):544-51. doi: 10.1016/j.clinre.2015.05.024. Epub 2015 Jul 15. Clin Res Hepatol Gastroenterol. 2015. PMID: 26186878 Review.
See all similar articles

Cited by 39 articles

See all "Cited by" articles
Feedback