Celiac disease: a comprehensive current review
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 transgluta...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-07-01
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| Series: | BMC Medicine |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12916-019-1380-z |
| _version_ | 1819071299353313280 |
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| author | Giacomo Caio Umberto Volta Anna Sapone Daniel A. Leffler Roberto De Giorgio Carlo Catassi Alessio Fasano |
| author_facet | Giacomo Caio Umberto Volta Anna Sapone Daniel A. Leffler Roberto De Giorgio Carlo Catassi Alessio Fasano |
| author_sort | Giacomo Caio |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T17:19:37Z |
| format | Article |
| id | doaj.art-aae1f87bb6ec4512a6448cf18c636580 |
| institution | Directory Open Access Journal |
| issn | 1741-7015 |
| language | English |
| last_indexed | 2024-12-21T17:19:37Z |
| publishDate | 2019-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medicine |
| spelling | doaj.art-aae1f87bb6ec4512a6448cf18c6365802022-12-21T18:56:12ZengBMCBMC Medicine1741-70152019-07-0117112010.1186/s12916-019-1380-zCeliac disease: a comprehensive current reviewGiacomo Caio0Umberto Volta1Anna Sapone2Daniel A. Leffler3Roberto De Giorgio4Carlo Catassi5Alessio Fasano6Department of Medical Sciences, University of FerraraDepartment of Medical and Surgical Sciences, University of BolognaCenter for Celiac Research and Treatment, Massachusetts General HospitalTakeda Pharmaceuticals International CoDepartment of Medical Sciences, University of FerraraCenter for Celiac Research and Treatment, Massachusetts General HospitalCenter for Celiac Research and Treatment, Massachusetts General HospitalAbstract 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.http://link.springer.com/article/10.1186/s12916-019-1380-zAlternative treatmentClinical phenotypesEpidemiologyGeneticsGluten-free dietHistopathological findings |
| spellingShingle | Giacomo Caio Umberto Volta Anna Sapone Daniel A. Leffler Roberto De Giorgio Carlo Catassi Alessio Fasano Celiac disease: a comprehensive current review BMC Medicine Alternative treatment Clinical phenotypes Epidemiology Genetics Gluten-free diet Histopathological findings |
| title | Celiac disease: a comprehensive current review |
| title_full | Celiac disease: a comprehensive current review |
| title_fullStr | Celiac disease: a comprehensive current review |
| title_full_unstemmed | Celiac disease: a comprehensive current review |
| title_short | Celiac disease: a comprehensive current review |
| title_sort | celiac disease a comprehensive current review |
| topic | Alternative treatment Clinical phenotypes Epidemiology Genetics Gluten-free diet Histopathological findings |
| url | http://link.springer.com/article/10.1186/s12916-019-1380-z |
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