Global InformationCoeliac disease information
| Coeliac disease | |
|---|---|
| Other names | Celiac sprue, nontropical sprue, endemic sprue, gluten enteropathy |
 | |
| Biopsy of small bowel showing coeliac disease manifested by blunting of villi, crypt hypertrophy, and lymphocyte infiltration of crypts | |
| Pronunciation |
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| Specialty | Gastroenterology, internal medicine |
| Symptoms | None or non-specific, abdominal distention, diarrhoea, constipation, malabsorption, weight loss, dermatitis herpetiformis[1][2] |
| Complications | Iron-deficiency anemia, osteoporosis, infertility, cancers, neurological problems, other autoimmune diseases[3][4][5][6][7] |
| Usual onset | Any age[1][8] |
| Duration | Lifelong[6] |
| Causes | Reaction to gluten[9] |
| Risk factors | Genetic predisposition, type 1 diabetes, autoimmune thyroid disease, Down and Turner syndrome |
| Diagnostic method | Family history, blood antibody tests, intestinal biopsies, genetic testing, response to gluten withdrawal[10][11] |
| Differential diagnosis | Inflammatory bowel disease, intestinal parasites, irritable bowel syndrome, cystic fibrosis[12] |
| Treatment | Gluten-free diet[13] |
| Frequency | ~1 in 135[14] |
Coeliac disease (British English) or celiac disease (American English) is a long-term autoimmune disorder, primarily affecting the small intestine, where individuals develop intolerance to gluten, present in foods such as wheat, rye and barley.[10] Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally.[1] Non-classic symptoms are more common, especially in people older than two years.[8][15][16] There may be mild or absent gastrointestinal symptoms, a wide number of symptoms involving any part of the body, or no obvious symptoms.[1] Coeliac disease was first described in childhood;[6][8] however, it may develop at any age.[1][8] It is associated with other autoimmune diseases, such as Type 1 diabetes mellitus and Hashimoto's thyroiditis, among others.[6]
Coeliac disease is caused by a reaction to gluten, a group of various proteins found in wheat and in other grains such as barley and rye.[9][17][18] Moderate quantities of oats, free of contamination with other gluten-containing grains, are usually tolerated.[17][19] The occurrence of problems may depend on the variety of oat.[17][20] It occurs more often in people who are genetically predisposed.[10] Upon exposure to gluten, an abnormal immune response may lead to the production of several different autoantibodies that can affect a number of different organs.[4][21] In the small bowel, this causes an inflammatory reaction and may produce shortening of the villi lining the small intestine (villous atrophy).[10][11] This affects the absorption of nutrients, frequently leading to anaemia.[10][18]
Diagnosis is typically made by a combination of blood antibody tests and intestinal biopsies, helped by specific genetic testing.[10] Making the diagnosis is not always straightforward.[22] About 10% of the time, the autoantibodies in the blood are negative,[23][24] and many people have only minor intestinal changes with normal villi.[25] People may have severe symptoms and they may be investigated for years before a diagnosis is achieved.[26][27] As a result of screening, the diagnosis is increasingly being made in people who have no symptoms.[28] Evidence regarding the effects of screening, however, is not sufficient to determine its usefulness.[29] While the disease is caused by a permanent intolerance to gluten proteins,[10] it is distinct from wheat allergy, which is much more rare.[30]
The only known effective treatment is a strict lifelong gluten-free diet, which leads to recovery of the intestinal lining (mucous membrane), improves symptoms, and reduces the risk of developing complications in most people.[13] If untreated, it may result in cancers such as intestinal lymphoma, and a slightly increased risk of early death.[3] Rates vary between different regions of the world, from as few as 1 in 300 to as many as 1 in 40, with an average of between 1 in 100 and 1 in 170 people.[14] It is estimated that 80% of cases remain undiagnosed, usually because of minimal or absent gastrointestinal complaints and lack of knowledge of symptoms and diagnostic criteria.[5][26][31] Coeliac disease is slightly more common in women than in men.[32]
- ^ a b c d e Fasano A (April 2005). "Clinical presentation of celiac disease in the pediatric population". Gastroenterology (Review). 128 (4 Suppl 1): S68–73. doi:10.1053/j.gastro.2005.02.015. PMID 15825129.
- ^ "Symptoms & Causes of Celiac Disease | NIDDK". National Institute of Diabetes and Digestive and Kidney Diseases. June 2016. Archived from the original on 24 April 2017. Retrieved 24 April 2017.
- ^ a b Lebwohl B, Ludvigsson JF, Green PH (October 2015). "Celiac disease and non-celiac gluten sensitivity". BMJ (Review). 351: h4347. doi:10.1136/bmj.h4347. PMC 4596973. PMID 26438584.
Celiac disease occurs in about 1% of the population worldwide, although most people with the condition are undiagnosed. It can cause a wide variety of symptoms, both intestinal and extra-intestinal because it is a systemic autoimmune disease that is triggered by dietary gluten. Patients with coeliac disease are at increased risk of cancer, including a twofold to fourfold increased risk of non-Hodgkin's lymphoma and a more than 30-fold increased risk of small intestinal adenocarcinoma, and they have a 1.4-fold increased risk of death.
- ^ a b Lundin KE, Wijmenga C (September 2015). "Coeliac disease and autoimmune disease-genetic overlap and screening". Nature Reviews. Gastroenterology & Hepatology (Review). 12 (9): 507–15. doi:10.1038/nrgastro.2015.136. PMID 26303674. S2CID 24533103.
The abnormal immunological response elicited by gluten-derived proteins can lead to the production of several different autoantibodies, which affect different systems.
- ^ a b "Celiac disease". World Gastroenterology Organisation Global Guidelines. July 2016. Archived from the original on 17 March 2017. Retrieved 23 April 2017.
- ^ a b c d Ciccocioppo R, Kruzliak P, Cangemi GC, Pohanka M, Betti E, Lauret E, Rodrigo L (22 October 2015). "The Spectrum of Differences between Childhood and Adulthood Celiac Disease". Nutrients (Review). 7 (10): 8733–51. doi:10.3390/nu7105426. PMC 4632446. PMID 26506381.
Several additional studies in extensive series of coeliac patients have clearly shown that TG2A sensitivity varies depending on the severity of duodenal damage, and reaches almost 100% in the presence of complete villous atrophy (more common in children under three years), 70% for subtotal atrophy, and up to 30% when only an increase in IELs is present. (IELs: intraepithelial lymphocytes)
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LionettiFrancavilla2010was invoked but never defined (see the help page). - ^ a b c d Husby S, Koletzko S, Korponay-Szabó IR, Mearin ML, Phillips A, Shamir R, Troncone R, Giersiepen K, Branski D, Catassi C, Lelgeman M, Mäki M, Ribes-Koninckx C, Ventura A, Zimmer KP, ESPGHAN Working Group on Coeliac Disease Diagnosis; ESPGHAN Gastroenterology Committee; European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (January 2012). "European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease" (PDF). J Pediatr Gastroenterol Nutr (Practice Guideline). 54 (1): 136–60. doi:10.1097/MPG.0b013e31821a23d0. PMID 22197856. S2CID 15029283. Archived from the original (PDF) on 3 April 2016. Retrieved 19 March 2016.
Since 1990, the understanding of the pathological processes of CD has increased enormously, leading to a change in the clinical paradigm of CD from a chronic, gluten-dependent enteropathy of childhood to a systemic disease with chronic immune features affecting different organ systems. (...) atypical symptoms may be considerably more common than classic symptoms
- ^ a b Tovoli F, Masi C, Guidetti E, Negrini G, Paterini P, Bolondi L (March 2015). "Clinical and diagnostic aspects of gluten related disorders". World Journal of Clinical Cases (Review). 3 (3): 275–84. doi:10.12998/wjcc.v3.i3.275. PMC 4360499. PMID 25789300.
- ^ a b c d e f g Lindfors, Katri; Ciacci, Carolina; Kurppa, Kalle; Lundin, Knut E. A.; Makharia, Govind K.; Mearin, M. Luisa; Murray, Joseph A.; Verdu, Elena F.; Kaukinen, Katri (December 2019). "Coeliac disease". Nature Reviews Disease Primers. 5 (1): 3. doi:10.1038/s41572-018-0054-z. ISSN 2056-676X. PMID 30631077. S2CID 5088821.
- ^ a b Vivas S, Vaquero L, Rodríguez-Martín L, Caminero A (November 2015). "Age-related differences in celiac disease: Specific characteristics of adult presentation". World Journal of Gastrointestinal Pharmacology and Therapeutics (Review). 6 (4): 207–12. doi:10.4292/wjgpt.v6.i4.207. PMC 4635160. PMID 26558154.
In addition, the presence of intraepithelial lymphocytosis and/or villous atrophy and crypt hyperplasia of small-bowel mucosa, and clinical remission after withdrawal of gluten from the diet, are also used for diagnosis antitransglutaminase antibody (tTGA) titers and the degree of histological lesions inversely correlate with age. Thus, as the age of diagnosis increases antibody titers decrease and histological damage is less marked. It is common to find adults without villous atrophy showing only an inflammatory pattern in duodenal mucosa biopsies: Lymphocytic enteritis (Marsh I) or added crypt hyperplasia (Marsh II)
- ^ Ferri, Fred F. (2010). Ferri's differential diagnosis : a practical guide to the differential diagnosis of symptoms, signs, and clinical disorders (2nd ed.). Philadelphia, PA: Elsevier/Mosby. p. Chapter C. ISBN 978-0323076999.
- ^ a b See JA, Kaukinen K, Makharia GK, Gibson PR, Murray JA (October 2015). "Practical insights into gluten-free diets". Nature Reviews. Gastroenterology & Hepatology (Review). 12 (10): 580–91. doi:10.1038/nrgastro.2015.156. PMID 26392070. S2CID 20270743.
A lack of symptoms and/or negative serological markers are not reliable indicators of mucosal response to the diet. Furthermore, up to 30% of patients continue to have gastrointestinal symptoms despite a strict GFD.122,124 If adherence is questioned, a structured interview by a qualified dietitian can help to identify both intentional and inadvertent sources of gluten.
- ^ a b Fasano A, Catassi C (December 2012). "Clinical practice. Celiac disease". The New England Journal of Medicine (Review). 367 (25): 2419–26. doi:10.1056/NEJMcp1113994. PMID 23252527.
- ^ Newnham, Evan D (2017). "Coeliac disease in the 21st century: Paradigm shifts in the modern age". Journal of Gastroenterology and Hepatology. 32: 82–85. doi:10.1111/jgh.13704. PMID 28244672. S2CID 46285202.
Presentation of CD with malabsorptive symptoms or malnutrition is now the exception rather than the rule.
- ^ Tonutti E, Bizzaro N (2014). "Diagnosis and classification of celiac disease and gluten sensitivity". Autoimmun Rev. 13 (4–5): 472–6. doi:10.1016/j.autrev.2014.01.043. PMID 24440147.
- ^ a b c Penagini F, Dilillo D, Meneghin F, Mameli C, Fabiano V, Zuccotti GV (November 2013). "Gluten-free diet in children: an approach to a nutritionally adequate and balanced diet". Nutrients (Review). 5 (11): 4553–65. doi:10.3390/nu5114553. PMC 3847748. PMID 24253052.
- ^ a b Di Sabatino A, Corazza GR (April 2009). "Coeliac disease". Lancet. 373 (9673): 1480–93. doi:10.1016/S0140-6736(09)60254-3. PMID 19394538. S2CID 8415780.
- ^ Pinto-Sánchez MI, Causada-Calo N, Bercik P, Ford AC, Murray JA, Armstrong D, Semrad C, Kupfer SS, Alaedini A, Moayyedi P, Leffler DA, Verdú EF, Green P (August 2017). "Safety of Adding Oats to a Gluten-Free Diet for Patients With Celiac Disease: Systematic Review and Meta-analysis of Clinical and Observational Studies" (PDF). Gastroenterology. 153 (2): 395–409.e3. doi:10.1053/j.gastro.2017.04.009. PMID 28431885.
- ^ Comino I, Moreno M, Sousa C (November 2015). "Role of oats in celiac disease". World Journal of Gastroenterology. 21 (41): 11825–31. doi:10.3748/wjg.v21.i41.11825. PMC 4631980. PMID 26557006.
It is necessary to consider that oats include many varieties, containing various amino acid sequences and showing different immunoreactivities associated with toxic prolamins. As a result, several studies have shown that the immunogenicity of oats varies depending on the cultivar consumed. Thus, it is essential to thoroughly study the variety of oats used in a food ingredient before including it in a gluten-free diet.
- ^ National Institute for Health and Clinical Excellence. Clinical guideline 86: Recognition and assessment of coeliac disease. London, 2015.
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Furthermore, seronegativity is more common in coeliac disease patients without villous atrophy (Marsh 1-2 lesions), but these 'minor' forms of coeliac disease may have similar clinical manifestations to those with villous atrophy and may show similar clinical–histological remission with reversal of haematological or biochemical disturbances on a gluten-free diet (GFD).
- ^ a b Cichewicz AB, Mearns ES, Taylor A, Boulanger T, Gerber M, Leffler DA, et al. (1 March 2019). "Diagnosis and Treatment Patterns in Celiac Disease". Dig Dis Sci (Review). 64 (8): 2095–2106. doi:10.1007/s10620-019-05528-3. PMID 30820708. S2CID 71143826.
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