Celiac disease
Overview
Also known as celiac sprue or gluten-sensitive enteropathy, celiac disease causes damage to the small intestine in response to gluten consumption. Gluten is a protein found in wheat, barley, and rye products. Over time the damage to the small intestine’s lining often causes systemic symptoms and damage. Sometimes an individual experiences no symptoms, which is known as asymptomatic celiac disease.
Common Symptoms
The symptoms and signs can be categorized as digestive-related or non-digestive-related. Symptoms may appear at any age, and people may experience one, many, or no noticeable symptoms.
Digestive Symptoms
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Non-Digestive Symptoms
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Coexisting Diseases and Conditions
This article, published in the peer-reviewed journal Nutrients, reviews skin conditions observed in children with celiac disease. Some key takeaways include:
Dermatitis Herpetiformis : A skin manifestation of celiac disease that causes an itchy, burning rash. It is mostly seen in adult patients with celiac disease, with the average onset occurring between 30-40 years of age. It resolves itself with the removal of gluten from the diet, and typically only flares upon gluten ingestion.
Chronic Urticaria : Children with celiac disease were found to be at a significantly higher risk of developing chronic urticaria than the general pediatric population. While the relationship between the two isn’t clear, the gluten-free diet helps to induce remission in both diseases.
Atopic Dermatitis : Despite some conflicting data and no definitive link between the two, celiac disease testing is still encouraged if a child presents with atopic dermatitis, as it is frequently associated with environmental allergies and food allergies.
Vitiligo : An increased frequency of celiac disease has been found in children with vitiligo.
Other coexisting diseases and conditions include type 1 diabetes, pernicious anemia, osteoporosis (loss of bone density)/osteomalacia (bone softening), hyposplenism (limited/reduced spleen function), Sjögren’s syndrome, autoimmune thyroid disorders, connective tissue disease, IgA deficiency, Postural Orthostatic Tachycardia Syndrome (POTS), and liver and biliary tract disorders.
Risk Factors and Prevalence
HLA-DQ2 or HLA-DQ8 genes, with environmental triggers of ingestion of gluten. Note that approximately 40% of the population has these genes, but only about 3% of this group has celiac disease.
In rare cases, it has been reported that celiac disease has been triggered by pregnancy, childbirth, or viral infection, including Covid-19. However, in some of these cases, celiac disease or gluten intolerance was already present and the triggers worsened the disease.
One current school of thought holds that celiac disease may be a spectrum of gluten intolerance and that those with gluten intolerance with no evidence of intestinal villi damage have a milder form of celiac disease.
Risk factors include related family members with celiac disease or, with lesser percentages, other autoimmune diseases such as dermatitis herpetiformis, type 1 diabetes, Down syndrome or Turner syndrome, autoimmune thyroid disease, microscopic colitis, or Addison’s.
Wondering If You Have Celiac Disease?
That can be a difficult question to answer, as CD can develop in childhood or adulthood, involve gastrointestinal or seemingly unrelated symptoms, or even present as asymptomatic. Symptoms such as abdominal bloating and pain, fatigue, joint pain, depression, anxiety, migraines, and seizures can easily be mistaken as signs of other issues and autoimmune conditions, including IBS, Crohn’s disease, and thyroid and hormone problems.
Thankfully, knowledge of this particular autoimmune disease has increased over the past few decades and we now have ample resources at our fingertips.
The Celiac Disease Foundation has compiled a helpful guide to classical and non-classical CD, as well as common symptoms of celiac disease, including digestive symptoms in children and non-digestive-related symptoms more commonly found in adults.
If you’re concerned you may have celiac disease, head over to their screening and diagnosis pages to get more information about the next steps to take.
Clinical Trials
ASPIRION Study
The ASPIRION phase 2 study is testing amlitelimab, an investigational medication designed to work alongside a gluten-free diet to reduce small-intestinal damage and persistent symptoms in adults with biopsy-confirmed celiac disease. Researchers aim to determine whether targeting immune pathways can improve outcomes for people who continue to experience symptoms despite strict gluten avoidance.
TEV-CeD2 Study
The TEV-CeD2 phase 2 trial is evaluating TEV-53408, an antibody that blocks interleukin-15, to see whether it can lessen intestinal injury and symptom flare-ups triggered by gluten exposure in individuals with celiac disease. This study focuses on adults who remain symptomatic even after long-term adherence to a gluten-free diet.
AVALON Study
The AVALON phase 1 trial is studying VTP-1000, an investigational therapy intended to promote immune tolerance to gluten and reduce symptom severity in adults with biopsy-confirmed celiac disease. Researchers are assessing its safety and early signals of effectiveness in people who have maintained a gluten-free diet for at least a year.
Recent Research
- Gluten-Dependent Activation of CD4+ T Cells by MHC Class II-Expressing Epithelium (2024)
- The Immunobiology and Pathogenesis of Celiac Disease (2023)
- Celiac Disease and the Risk of Cardiovascular Diseases (2023)
- COVID-19 and celiac disease: a review (2023)
- Migraine, inflammatory bowel disease and celiac disease: A Mendelian randomization study (2023)
- New Developments in Celiac Disease Treatment (2023)
- Society for the Study of Celiac Disease position statement on gaps and opportunities in coeliac disease (2021)
GAI-funded Research:
- Associations between executive functioning and adherence in pediatric celiac disease (2023)
- Preparation of Gluten-Free Foods Alongside Gluten-Containing Food May Not Always Be as Risky for Celiac Patients as Diet Guides Suggest (2020)
- Psychological Needs and Services in a Pediatric Multidisciplinary Celiac Disease Clinic (2020)
- Mental Health Disorders and Psychosocial Distress in Pediatric Celiac Disease (2020)
- A Quantitative Assessment of Gluten Cross-contact in the School Environment for Children with Celiac Disease (2020)
Sources
- Sources
Al-Toma, A., Volta, U., Auricchio, R., Castillejo, G., Sanders, D. S., Cellier, C., Mulder, C. J., & Lundin, K. E. A. (2019). European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterology Journal, 7(5), 583–613. https://doi.org/10.1177/2050640619844125
Celiac Disease: Who is at Risk? | BeyondCeliac.org. (n.d.). Beyond Celiac. Retrieved June 9, 2021, from https://www.beyondceliac.org/celiac-disease/risk-factors/
Celiac disease—Symptoms and causes. (n.d.). Mayo Clinic. Retrieved June 9, 2021, from https://www.mayoclinic.org/diseases-conditions/celiac-disease/symptoms-causes/syc-20352220
Martina, S., Fabiola, F., Federica, G., Chiara, B., Gioacchino, L., Francesco, D. M., & Gian, L. de’Angelis. (2018). Genetic susceptibility and celiac disease: What role do HLA haplotypes play? Acta Bio Medica : Atenei Parmensis, 89(Suppl 9), 17–21. https://doi.org/10.23750/abm.v89i9-S.7953
Symptoms of Celiac Disease. (n.d.). Celiac Disease Foundation. Retrieved June 9, 2021, from https://celiac.org/about-celiac-disease/symptoms-of-celiac-disease/
Rose, N. R., & Mackay, I. R. (2020). The Autoimmune Diseases (6th ed., pp. 849-863). Academic Press.
Celiac Disease Program at Children’s National Hospital
Wieser, Koehler & Konitzer (2014). Celiac Disease and Gluten, Multidisciplinary Challenges and Opportunities, Academic Press (ISBN 9780124202207). https://doi.org/10.1016/B978-0-12-420220-7.09003-9
Verdu, E. F., Galipeau, H. J., & Jabri, B. (2015). Novel players in coeliac disease pathogenesis: role of the gut microbiota. Nature reviews. Gastroenterology & hepatology, 12(9), 497–506. https://doi.org/10.1038/nrgastro.2015.90
Thevaranjan, N., et al. (2017). Age-Associated Microbial Dysbiosis Promotes Intestinal Permeability, Systemic Inflammation, and Macrophage Dysfunction. Cell host & microbe, 21(4), 455–466.e4. https://doi.org/10.1016/j.chom.2017.03.002