Small Bowel· Chapter 10

Celiac Disease and Sprue Spectrum

TTG-IgA plus DGP serology, Marsh and Oslo classifications, gluten-free diet with mucosal healing as the goal, dermatitis herpetiformis, refractory celiac type 1 versus type 2, the EATL pathway, and the seronegative villous-atrophy differential (NSAID enteropathy, olmesartan, autoimmune enteropathy).

28 MCQs2 podcast episodes
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What this chapter covers

  • Section 10.1: Pathogenesis, genetics, and epidemiology

    Celiac disease is an HLA-restricted, gluten-driven enteropathy, and every fact in the chapter falls out of a single mechanistic sentence: gluten peptides resist gastrointestinal proteolysis, reach the lamina propria, are deamidated by tissue transglutaminase 2, and the deamidated peptides bind HLA-DQ2 or HLA-DQ8 on antigen-presenting cells where they activate gluten-specific CD4+ T cells that drive the cytokine cascade behind the villous atrophy.

  • Section 10.2: Clinical presentations

    Celiac disease in adults now rarely presents with the textbook malabsorption picture.

  • Section 10.3: Diagnosis

    Diagnosis of celiac disease rests on serology drawn on a gluten-containing diet, confirmed by upper endoscopy with multiple duodenal biopsies, and triangulated against HLA in selected scenarios.

  • Section 10.4: Treatment, monitoring, and mucosal healing

    A strict, lifelong gluten-free diet is the entire treatment for celiac disease, and every other element of management is built around supporting and verifying that diet.

  • Section 10.5: Refractory celiac disease

    Refractory celiac disease is considered when a patient with biopsy-proven celiac disease has persistent or recurrent malabsorptive symptoms with histologic villous atrophy despite at least 12 months of strict gluten-free diet and no other explanation.

  • Section 10.6: Complications

    The malignancy spectrum in celiac disease is the most serious long-term consequence, and the risk is concentrated in patients with refractory disease (especially RCD2) and in patients with poorly controlled or unrecognized disease, while strict gluten-free diet attenuates but does not eliminate the risk.

Podcast episodes

  1. 01

    Celiac Disease and Sprue Spectrum: Test and Treat

    Adult celiac disease usually hides behind another diagnosis, and the mechanism of gluten injury explains every test used to find it. This episode follows one young woman with iron deficiency, loose stools, and a fracture. It starts with the atypical presentations and the autoimmune associations that raise suspicion. It then covers the immune mechanism, including HLA-DQ2 and DQ8, and the rule that testing happens on gluten. Next come tissue transglutaminase IgA with total IgA, the biopsy protocol and Marsh grading, and the limited role of HLA testing. The silent, potential, and seronegative forms and dermatitis herpetiformis follow. It ends with the gluten-free diet, vaccination, bone protection, and follow-up.

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  2. 02

    Celiac Disease and Sprue Spectrum: When Diet Fails

    The organizing idea is that most celiac patients who fail the diet are not refractory, so the order of the workup matters. Using one 61-year-old man with watery diarrhea and weight loss, the episode starts with a dietitian review for hidden gluten, then confirms the original diagnosis with serology, HLA typing, and expert biopsy review. It then looks for coexisting causes such as microscopic colitis, pancreatic insufficiency, and bacterial overgrowth, and for drugs like olmesartan that mimic the disease. Only then does it define refractory disease, show how fresh biopsies and flow cytometry separate type one from type two, and compare their treatment and outcomes. It closes with enteropathy-associated lymphoma, ulcerative jejunitis, small bowel adenocarcinoma, and who needs surveillance.

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Key topics

  • Atypical adult presentations of celiac disease
  • Autoimmune associations and family risk
  • Gluten, tissue transglutaminase, and HLA-DQ2 or DQ8
  • Epidemiology and screening of relatives
  • Testing while eating gluten and the gluten challenge
  • Tissue transglutaminase IgA with total IgA
  • Duodenal biopsy protocol and Marsh classification
  • Role and limits of HLA testing
  • Silent, potential, and seronegative celiac disease
  • Dermatitis herpetiformis and dapsone
  • Gluten-free diet, vaccination, and bone care
  • Serology and biopsy follow-up
  • Non-responsive celiac disease
  • Hidden gluten and dietitian review
  • Confirming the original diagnosis
  • Microscopic colitis and other coexisting causes
  • Drug-induced villous atrophy
  • Defining refractory celiac disease
  • Biopsy handling and flow cytometry
  • Type one versus type two treatment
  • Enteropathy-associated T-cell lymphoma and ulcerative jejunitis
  • Small bowel adenocarcinoma and surveillance

Sources

Guidelines, consensus statements, and validated instruments this chapter draws on. Named here because the chapter applies them directly.

Professional society guidelines

  • American Gastroenterological Association (AGA)
  • American College of Gastroenterology (ACG)