BMC Medicine· 2019Q1· Review
Celiac disease: a comprehensive current review
- 1,092citations
- Q1SCImago
- 2019year
Short summary
Celiac disease, affecting approximately 1% of the population, is an autoimmune disorder triggered by gluten, with genetic predisposition and environmental factors playing key roles. While a strict gluten-free diet is the current sole treatment, research is exploring alternative therapies.
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Key points
- Celiac disease has an approximate prevalence of 1% globally, with a female predominance.
- Tissue transglutaminase has been identified as the key autoantigen, confirming the autoimmune nature of the disease.
- Diagnosis relies on serological markers (e.g., anti-tTG antibodies) and small intestinal biopsy.
- A strict, lifelong gluten-free diet is the only current treatment, improving quality of life and preventing complications.
- Challenges remain in understanding certain phenotypes and developing alternative treatments.
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Abstract
BACKGROUND: Celiac disease remains a challenging condition because of a steady increase in knowledge tackling its pathophysiology, diagnosis, management, and possible therapeutic options. MAIN BODY: A major milestone in the history of celiac disease was the identification of tissue transglutaminase as the autoantigen, thereby confirming the autoimmune nature of this disorder. A genetic background (HLA-DQ2/DQ8 positivity and non-HLA genes) is a mandatory determinant of the development of the disease, which occurs with the contribution of environmental factors (e.g., viral infections and dysbiosis of gut microbiota). Its prevalence in the general population is of approximately 1%, with female predominance. The disease can occur at any age, with a variety of symptoms/manifestations. This multifaceted clinical presentation leads to several phenotypes, i.e., gastrointestinal, extraintestinal, subclinical, potential, seronegative, non-responsive, and refractory. Although small intestinal biopsy remains the diagnostic 'gold standard', highly sensitive and specific serological tests, such as tissue transglutaminase, endomysial and deamidated gliadin peptide antibodies, have become gradually more important in the diagnostic work-up of celiac disease. Currently, the only treatment for celiac disease is a life-long, strict gluten-free diet leading to improvement in quality of life, ameliorating symptoms, and preventing the occurrence of refractory celiac disease, ulcerative jejunoileitis, and small intestinal adenocarcinoma and lymphoma. CONCLUSIONS: The present review is timely and provides a thorough appraisal of various aspects characterizing celiac disease. Remaining challenges include obtaining a better understanding of still-unclear phenotypes such as slow-responsive, potential (minimal lesions) and seronegative celiac disease. The identification of alternative or complementary treatments to the gluten-free diet brings hope for patients unavoidably burdened by diet restrictions.
The authors' abstract, as published at the source. BMC Medicine, 2019 · DOI ↗
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Field: Gastroenterology
GastroenterologyMedicine