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

  • Chronic or intermittent diarrhea
  • Constipation
  • Abdominal pain, bloating, or cramping
  • Nausea or vomiting
  • Pale, foul-smelling, or fatty stools
  • Weight loss or failure to gain weight
  • Malabsorption of nutrients
  • Swollen belly
  • Mouth ulcers
  • Lactose intolerance
  • Feeding problems or poor appetite (especially in children)
  • Delayed growth, short stature

Non-Digestive Symptoms

  • Fatigue, low energy
  • Headaches or migraines
  • Joint or bone pain
  • Neurological symptoms: tingling, numbness, balance issues, seizures, fainting
  • Cognitive issues: brain fog, memory problems, attention deficits
  • Mental health: anxiety, depression, mood swings
  • Anemia
  • Hormonal issues: delayed puberty, loss of menstruation
  • Tooth enamel defects
  • Skin rashes (e.g., eczema)
  • Frequent bruising
  • Sleep disturbances
  • Frequent infections: sinus infections, UTIs, or general illness
  • Vision changes
  • Bone loss: osteoporosis or osteomalacia

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.

Sources

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    2. 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/

    3. 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

    4. 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

    5. Symptoms of Celiac Disease. (n.d.). Celiac Disease Foundation. Retrieved June 9, 2021, from https://celiac.org/about-celiac-disease/symptoms-of-celiac-disease/

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    7. Celiac Disease Program at Children’s National Hospital

    8. Wieser, Koehler & Konitzer (2014). Celiac Disease and Gluten, Multidisciplinary Challenges and OpportunitiesAcademic Press (ISBN 9780124202207). https://doi.org/10.1016/B978-0-12-420220-7.09003-9

    9. Verdu, E. F., Galipeau, H. J., & Jabri, B. (2015). Novel players in coeliac disease pathogenesis: role of the gut microbiotaNature reviews. Gastroenterology & hepatology12(9), 497–506. https://doi.org/10.1038/nrgastro.2015.90

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