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, 148 (6), 1175-86

Advances in Diagnosis and Management of Celiac Disease


Advances in Diagnosis and Management of Celiac Disease

Ciarán P Kelly et al. Gastroenterology.


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.


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

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

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 , ,

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