• Clinical science

Celiac disease (Gluten‑sensitive enteropathy…)

Summary

Celiac disease, also referred to as celiac sprue or non-tropical sprue, is a common condition characterized by a maladaptive immune response to gluten, a protein found in many grains (e.g., wheat). The disease often occurs in patients with other autoimmune illnesses, as both are associated with HLA variants (human leukocyte antigens, which encode immunoregulatory proteins) that cause pathologically increased immune responses. The underlying pathophysiology is believed to be a combination of gluten intolerance, which triggers an autoimmune reaction, and production of autoantibodies that target tissue transglutaminase, specifically within the proximal small intestine. Typical findings include changes in bowel habits and symptoms associated with malabsorption (e.g., fatigue, weight loss, vitamin deficiencies). Diagnostic tests include the detection of various antibodies. To confirm the diagnosis, an endoscopic biopsy from the small intestine is needed. Histopathological findings often include villous atrophy and crypt hyperplasia. A firm diagnosis is necessary, as therapy involves a lifelong commitment to a gluten-free diet. If patients comply with this diet, the prognosis is generally very good and the increased risk of celiac-associated malignancies (e.g., intestinal lymphoma) is mitigated.

Definition

  • Definition: an autoimmune disorder characterized by an intestinal hypersensitivity to gluten, a grain protein
  • Synonyms for celiac disease include celiac sprue and gluten-sensitive enteropathy

References:[1][2]

Epidemiology

  • Sex: >
  • Age of onset
    • Bimodal distribution:
      • At 8–12 months (or 2–3 months following the first exposure to gluten through diet containing wheat)
      • Third to fourth decade of life
    • But can occur at any age
  • Prevalence: in the US ∼ 1:3000
  • More common in individuals of northern European descent

References:[1][3][4]

Epidemiological data refers to the US, unless otherwise specified.

Etiology

  • Genetic predisposition with association to HLA antigens
  • Consuming gliadin from grains such as wheat, rye, and barley leads to an autoimmune reaction within the small intestinal wall.
  • Commonly associated with autoimmune diseases (see “Clinical features” below)

References:[5][6]

Pathophysiology

Symptoms occur when an individual who is genetically predisposed develops an immunological response to gliadin, an alcohol-soluble fraction of gluten.

References:[5][3][7]

Clinical features

Gastrointestinal symptoms

Extraintestinal symptoms and associations

In both children and adults, mild or asymptomatic cases are more common than the classic presentation of the disease.

References:[1][8][5][9]

Diagnostics

If celiac disease is suspected (based on the medical history and clinical features), serum antibodies may be tested. Ultimately, the diagnosis should be confirmed via biopsy.

Laboratory tests

Endoscopy with small intestine biopsy

References:[10][11][12][1][8][6][13]

Differential diagnoses

Tropical sprue

Whipple disease

References:[14][15][16]

The differential diagnoses listed here are not exhaustive.

Treatment

  • Lifelong gluten-free diet
    • Abstain from products containing: wheat, rye, barley, spelt
    • Recommended foods: rice, maize, potatoes, soy beans, millet, potentially oats
    • In ∼ 70% of cases, clinical improvement occurs within two weeks after initiating the diet.
    • Histological improvement occurs within weeks to months after beginning the diet.
  • In case of secondary lactase deficiency: avoid milk products
  • Iron and vitamin substitution
  • Supplementation of calcium and vitamin D to prevent bone loss

Managing celiac disease mainly consists of maintaining a lifelong gluten-free diet!
References:[11][1][17]

Complications

References:[11][1]

We list the most important complications. The selection is not exhaustive.

Prevention

With infants, maintaining a gluten-free diet that only introduces small amounts of wheat (into the supplementary diet) between 17–26 weeks of age appears to have a protective effect against developing celiac disease.

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  • 7. Lindfors K, Kaukinen K. Contribution of Celiac Disease Autoantibodies to the Disease Process. In: Contribution of Celiac Disease Autoantibodies to the Disease Process. New York, NY: WebMD. http://www.medscape.com/viewarticle/757922. Updated January 1, 2012. Accessed December 25, 2016.
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  • 12. Rostom A, Murray JA, Kagnoff MF. American Gastroenterological Association (AGA) Institute technical review on the diagnosis and management of celiac disease. Gastroenterology. 2006; 131(6): pp. 1981–2002. doi: 10.1053/j.gastro.2006.10.004.
  • 13. Hill ID. Diagnosis of celiac disease in children. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/diagnosis-of-celiac-disease-in-children. Last updated November 2, 2016. Accessed December 25, 2016.
  • 14. Lamont JT. Tropical sprue. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/tropical-sprue. Last updated September 26, 2016. Accessed December 24, 2016.
  • 15. Apstein MD, Schneider T. Whipple's disease. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/whipples-disease. Last updated March 18, 2016. Accessed December 24, 2016.
  • 16. Roberts IM. Whipple Disease. In: Cagir B. Whipple Disease. New York, NY: WebMD. http://emedicine.medscape.com/article/183350. Updated November 20, 2016. Accessed December 24, 2016.
  • 17. AGA Committee on Osteoporosis in Gastrointestinal Disease. American Gastroenterological Association medical position statement: guidelines on osteoporosis in gastrointestinal diseases. Gastroenterology. 2003; 124(3): pp. 791–4. doi: 10.1053/gast.2003.50107.
  • Rampertab SD, Pooran N, Brar P et al. Trends in the presentation of celiac disease. The American Journal of Medicine. 2006; 119(4): pp. 355.e9–14. pmid: 16564784.
last updated 12/06/2019
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