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Patients who should be tested for celiac disease include those with classic gastrointestinal manifestations or those deemed at high risk based on genetic susceptibility.
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Diagnosis of celiac disease is usually initiated by serologic testing with anti-tTG, anti-DGP, or EMA and confirmed with duodenal biopsy.
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Generally, patient nonresponse to gluten-free diet is typically caused by either unintentional gluten exposure or by a secondary cause, such as inflammatory bowel disease or small intestinal
Diagnosis and Updates in Celiac Disease
Section snippets
Key points
Pathogenesis
CD develops in genetically susceptible individuals who are exposed to gluten. The clinical presentation of CD can vary greatly including the age of onset, presenting symptoms, the level of antibody titers, and a range of histopathologic findings, which can likely be explained by the interaction between genetic predisposition and environmental exposure.
Clinical features
The clinical features of CD range from classical symptoms, to nonclassical and symptomatic, to asymptomatic. Classical symptoms generally include those resulting from malabsorption including diarrhea, steatorrhea, weight loss, and growth restriction in children. Nonclassical and symptomatic patients tend to have either some gastrointestinal symptoms, such as abdominal pain or constipation, or may have extraintestinal symptoms. Age of onset of disease is at any age when there is exposure to
Traditional approach to testing
Based on the range of patient presentations from asymptomatic to malaborptive symptoms, and the associated intestinal and extraintestinal manifestations that may develop, it is necessary to know when and which patients to test for CD. The American College of Gastroenterology Clinical Guideline published in the American Journal of Gastroenterology in 2013, outlined those individuals who should be tested for CD (Box 1).2
As outlined in Box 1, testing should be performed on those with signs or
Treatment with gluten-free diet
After diagnosis of CD through the measures discussed previously, a gluten-free diet with an intake of less than 10 mg of gluten per day should be initiated. Diet generally results in symptomatic improvement in most patients within 4 weeks. Generally serologic normalization of anti-tTG takes months to a year, and normalization of histologic results can take an estimated 3.8 years.5 After initiating this diet, about 20% of patients report persistent or recurrent symptoms after diagnosis termed
Refractory celiac disease
Refractory CD (RCD) is characterized by duodenal atrophy and malabsorption despite confirmed adherence to gluten-free diet for greater than 12 months in the absence of other causes of villous atrophy.1 RCD develops in about 10% of patients with nonresponsive RCD, and in about 1% of patients with CD overall.
There are two types of RCD. Type 1 RCD is usually easily treatable and prognosis is good. Treatment generally includes nutritional support and budesonide.3 Type 2 RCD is a severe syndrome
Ultrasound
Traditionally given the low cost and lack of radiation, abdominal ultrasound is the first method to investigate the small bowel in patients with persistent symptoms. Markers of CD on ultrasound include the presence of abdominal fluid, enlargement of mesenteric lymph nodes, and occasionally increased gallbladder volume.5 After 1 year of gluten-free diet, these abnormalities can reverse. However, ultrasound is not specific or sensitive for bowel wall thickening or detection of malignancy, and
Advanced endoscopic modalities in celiac disease
Although radiologic techniques are less invasive, less time consuming, with fewer potential complications, they are limited in their ability to visualize the mucosa of the bowel and there is no ability to obtain biopsies or directly treat lesions.
Summary
In the initial diagnosis of CD, there are multiple useful modalities including serologic testing with high sensitivity and specificity, which can then be confirmed through duodenal biopsy demonstrating characteristic features of increased IEL, crypt hyperplasia, and villous atrophy. However, in complicated CD, further imaging and advanced endoscopic techniques have been studied and are useful in diagnosing associated complications including RCD, malignancies, such as small bowel lymphoma, and
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Role of HLA-DQB1 alleles in the risk, signs and symptoms, and severity of celiac disease in a Venezuelan population
2023, Revista de Gastroenterologia de MexicoThe impact of celiac disease and duration of gluten free diet on anterior and posterior ocular structures: Ocular imaging based study
2021, Photodiagnosis and Photodynamic TherapyCitation Excerpt :In CD, deposition of antigliadin antinbodies and/or circulating immune complexes in the eye tissue [20,30–32], cross-reactivity between antigenic epitopes on cells, and vitamin deficiences due to late diagnosis of CD [33] may contribute to the process of affecting the tissues of the eye. To diagnose celiac, some serological tests should be performed for patients while on a gluten containing diet [5]. Some of the noninvasive screening tests are; EMA, antigliadin antibodies (AGA), anti-tTG, gliadin-derived peptide antibodies IgA/IgG (anti-DGP).
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2020, Wheat - An Exceptional Crop: Botanical Features, Chemistry, Utilization, Nutritional and Health AspectsTemperature-treated gluten proteins in Gluten-Friendly™ bread increase mucus production and gut-barrier function in human intestinal goblet cells
2018, Journal of Functional FoodsCitation Excerpt :However, achieving a lifestyle completely free of gluten is in reality often impossible, due to practical and social challenges, which include the cross-contamination of foods (Hall, Rubin & Charnock, 2013; Thompson & Simpson, 2015). Furthermore, the effectiveness of a GFD varies among patients, whereas in non-responsive and refractory CD patients, GFD does not improve symptoms at all (Shannahan & Leffler, 2017). Moreover, the GFD is often low in vitamins and minerals, such as B vitamins, iron, calcium and zinc (Bascunan, Vespa & Araya, 2017; Olivares et al., 2015; Shannahan & Leffler, 2017), and is deficient in fiber (Hallert et al., 2002; Shepherd & Gibson, 2013).
In vitro Gluten Degradation Using Recombinant Eurygaster Integriceps Prolyl Endoprotease: Implications for Celiac Disease
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Disclosure Statement: Consultant and/or provided research support for Alba Therapeutics, Alvine Pharmaceuticals, INOVA Diagnostics, Genzyme, Coronado Biosciences, Sidney Frank Foundation, and Pfizer (D.A. Leffler).