Coeliac disease

Coeliac disease
Other namesCoeliac sprue, nontropical sprue, endemic sprue, gluten enteropathy
Biopsy of small bowel showing coeliac disease manifested by blunting of villi, crypt hyperplasia, and lymphocyte infiltration of crypts
Pronunciation
  • /ˈsiːliæk/ ⓘ SEE-lee-ak
SpecialtyGastroenterology, internal medicine
SymptomsNone or non-specific, diarrhoea, malabsorption, and weight loss.
ComplicationsIron-deficiency anemia, osteoporosis, infertility, cancers, and nutritional deficiencies.
Usual onsetAny age[1][2]
DurationLifelong[3]
CausesReaction to gluten
Risk factorsGenetic predisposition and environmental factors
Diagnostic methodBlood tests, intestinal biopsies, and clinical criteria
Differential diagnosisInflammatory bowel disease, intestinal parasites, irritable bowel syndrome, cystic fibrosis[4]
TreatmentGluten-free diet[5]
Frequency~1 in 135[6]

Coeliac disease (British English) or celiac disease (American English) is a chronic autoimmune disease, mainly affecting the small intestine, and is caused by the consumption of gluten. Coeliac disease causes a wide range of symptoms and complications that can affect multiple organs outside of the gastrointestinal tract.

The symptoms of Coeliac disease can be divided into two subtypes, classic and non-classic. The classic form of the disease can affect any age group, but is usually diagnosed in early childhood and causes symptoms of malabsorption such as weight loss, diarrhoea, and stunted growth. Non-classic coeliac disease is more commonly seen in adults and is characterized by vague abdominal symptoms and complications in organs outside of the gastrointestinal tract, such as bone disease, anemia, and other consequences of nutritional deficiencies.

Coeliac disease is caused by an abnormal immune system response to gluten, found in wheat and other grains such as barley and rye. When an individual with a genetic predisposition to coeliac disease consumes gluten, it triggers an inflammatory response in the small intestine, damaging the intestinal lining, leading to malabsorption. The development of coeliac disease is believed to be influenced by other environmental factors, such as infections.

Diagnosis is typically made by a combination of blood antibody tests and intestinal biopsies, helped by specific genetic testing.[7] Making the diagnosis is not always straightforward.[8] About 10% of the time, the autoantibodies in the blood are negative,[9][10] and many people have only minor intestinal changes with normal villi.[11] People may have severe symptoms and they may be investigated for years before a diagnosis is achieved.[12][13] As a result of screening, the diagnosis is increasingly being made in people who have no symptoms.[14] Evidence regarding the effects of screening, however, is currently insufficient to determine its usefulness.[15] While the disease is caused by a permanent intolerance to gluten proteins,[7] it is distinct from wheat allergy, which is much more rare.[16][17]

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.[5] If untreated, it may result in cancers such as intestinal lymphoma, and a slightly increased risk of early death.[18] 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.[6] 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.[19][12][20] Coeliac disease is slightly more common in women than in men.[21]

  1. ^ 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.
  2. ^ Husby S, Koletzko S, Korponay-Szabó IR, Mearin ML, Phillips A, Shamir R, et al. (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): 136–160. doi:10.1097/MPG.0b013e31821a23d0. hdl:2437/165418. PMID 22197856. 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
  3. ^ Ciccocioppo R, Kruzliak P, Cangemi GC, Pohanka M, Betti E, Lauret E, et al. (22 October 2015). "The Spectrum of Differences between Childhood and Adulthood Celiac Disease". Nutrients (Review). 7 (10): 8733–8751. 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)
  4. ^ Ferri FF (2010). "Chapter C". Ferri's differential diagnosis: a practical guide to the differential diagnosis of symptoms, signs, and clinical disorders (2nd ed.). Philadelphia, PA: Elsevier/Mosby. ISBN 978-0-323-07699-9.
  5. ^ 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): 580–591. doi:10.1038/nrgastro.2015.156. PMID 26392070. 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.
  6. ^ a b Fasano A, Catassi C (December 2012). "Clinical practice. Celiac disease". The New England Journal of Medicine (Review). 367 (25): 2419–2426. doi:10.1056/NEJMcp1113994. PMID 23252527.
  7. ^ a b Lindfors K, Ciacci C, Kurppa K, Lundin KE, Makharia GK, Mearin ML, et al. (January 2019). "Coeliac disease". Nature Reviews. Disease Primers. 5 (1) 3. doi:10.1038/s41572-018-0054-z. PMID 30631077.
  8. ^ Matthias T, Pfeiffer S, Selmi C, Eric Gershwin M (April 2010). "Diagnostic challenges in celiac disease and the role of the tissue transglutaminase-neo-epitope". Clin Rev Allergy Immunol (Review). 38 (2–3): 298–301. doi:10.1007/s12016-009-8160-z. PMID 19629760.
  9. ^ Lewis NR, Scott BB (July 2006). "Systematic review: the use of serology to exclude or diagnose coeliac disease (a comparison of the endomysial and tissue transglutaminase antibody tests)". Alimentary Pharmacology & Therapeutics. 24 (1): 47–54. doi:10.1111/j.1365-2036.2006.02967.x. PMID 16803602.
  10. ^ Cite error: The named reference AGA2006 was invoked but never defined (see the help page).
  11. ^ Molina-Infante J, Santolaria S, Sanders DS, Fernández-Bañares F (May 2015). "Systematic review: noncoeliac gluten sensitivity". Alimentary Pharmacology & Therapeutics (Review). 41 (9): 807–820. doi:10.1111/apt.13155. PMID 25753138. 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).
  12. ^ a b Cichewicz AB, Mearns ES, Taylor A, Boulanger T, Gerber M, Leffler DA, et al. (August 2019). "Diagnosis and Treatment Patterns in Celiac Disease". Digestive Diseases and Sciences (Review). 64 (8): 2095–2106. doi:10.1007/s10620-019-05528-3. PMID 30820708.
  13. ^ Ludvigsson JF, Card T, Ciclitira PJ, Swift GL, Nasr I, Sanders DS, et al. (April 2015). "Support for patients with celiac disease: A literature review". United European Gastroenterology Journal (Review). 3 (2): 146–159. doi:10.1177/2050640614562599. PMC 4406900. PMID 25922674.
  14. ^ van Heel DA, West J (July 2006). "Recent advances in coeliac disease". Gut (Review). 55 (7): 1037–1046. doi:10.1136/gut.2005.075119. PMC 1856316. PMID 16766754.
  15. ^ Bibbins-Domingo K, Grossman DC, Curry SJ, Barry MJ, Davidson KW, Doubeni CA, et al. (March 2017). "Screening for Celiac Disease: US Preventive Services Task Force Recommendation Statement". JAMA. 317 (12): 1252–1257. doi:10.1001/jama.2017.1462. PMID 28350936.
  16. ^ Burkhardt JG, Chapa-Rodriguez A, Bahna SL (July 2018). "Gluten sensitivities and the allergist: Threshing the grain from the husks". Allergy. 73 (7): 1359–1368. doi:10.1111/all.13354. PMID 29131356.
  17. ^ Costantino A, Aversano GM, Lasagni G, Smania V, Doneda L, Vecchi M, et al. (2022). "Diagnostic management of patients reporting symptoms after wheat ingestion". Frontiers in Nutrition. 9 1007007. doi:10.3389/fnut.2022.1007007. PMC 9582535. PMID 36276818.
  18. ^ 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 lymphoma and a more than 30-fold increased risk of small intestinal adenocarcinoma, and they have a 1.4-fold increased risk of death.{{cite journal}}: CS1 maint: article number as page number (link)
  19. ^ "Celiac disease". World Gastroenterology Organisation Global Guidelines. July 2016. Archived from the original on 17 March 2017. Retrieved 23 April 2017.
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  21. ^ Hischenhuber C, Crevel R, Jarry B, Mäki M, Moneret-Vautrin DA, Romano A, et al. (March 2006). "Review article: safe amounts of gluten for patients with wheat allergy or coeliac disease". Alimentary Pharmacology & Therapeutics. 23 (5): 559–575. doi:10.1111/j.1365-2036.2006.02768.x. PMID 16480395.
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