Learn more about the Causes, Symptoms, and Diagnosis process for Celiac disease!

Causes

Celiac disease is hereditary, an autoimmune response to ingesting gluten. It can be caused by a variety of factors, including gluten exposure and environmental triggers, but most research suggests a genetic predisposition plays the greatest role.
  • Genetics: Celiac disease is an autoimmune disease, which means that the body’s immune system mistakenly attacks healthy tissues. In people with celiac disease, the immune system attacks the lining of the small intestine when gluten is consumed. Individuals with specific genetic markers, such as HLA-DQ2 or HLA-DQ8, are more predisposed to developing the condition [1].
  • Gluten: Gluten is a protein found in wheat, rye, and barley. When people with celiac disease eat gluten, it triggers an immune response that damages the villi, which are tiny finger-like projections that line the small intestine. The villi are responsible for absorbing nutrients from food, so damage to the villi can lead to malnutrition.
  • Environmental factors: While the exact environmental factors that trigger celiac disease are not fully understood, [2] research suggests that certain factors, such as early exposure to gluten, viral infections, and gut bacteria, may play a role in the development of the disease.
 

Symptoms

Celiac disease can cause an incredibly wide variety of symptoms -- that's what makes it particularly difficult to diagnose properly.
 
  • Digestive symptoms [3]: Most common symptoms of celiac disease include diarrhea, constipation, bloating, gas, abdominal pain, and nausea.
  • Nutritional deficiencies: Damage to the small intestine can interfere with the absorption of nutrients [3], such as iron, folic acid, and vitamin B12. This can lead to nutritional deficiencies, which can cause symptoms such as fatigue, anemia, and weakness.
  •  Other: Celiac disease can also cause a variety of other symptoms, such as weight loss, joint pain, headaches, and skin rashes.

Diagnosis

The journey to diagnosis is difficult and often paved with misdiagnosis and hardship. Keep your chin up!
  • Blood/Stool tests [4]: These tests can be used to screen for celiac disease by looking for antibodies that are produced by the immune system in response to gluten. These antibodies are called celiac antibodies. If your blood tests are positive for celiac antibodies, your doctor may recommend further testing to confirm the diagnosis in the next step.
  • Biopsy [4]: A biopsy is the only definitive way to diagnose celiac disease. During a biopsy, a small sample of tissue is taken from the lining of the small intestine and examined under a microscope. If the villi, which are tiny finger-like projections that absorb nutrients from food, are damaged, it is a strong indication of celiac disease.
  • Genetic Testing [4, 5]: Although not strictly necessary for a diagnosis,

    genetic testing can be used to determine if you have a genetic predisposition to celiac disease. This information can be helpful for people with a family history of celiac disease or for people who have symptoms but negative blood tests. However, genetic testing cannot be used to diagnose celiac disease on its own.

Sources referenced:
  1. National Institute of Diabetes and Digestive and Kidney Diseases. (2022, November). Celiac Disease. National Institutes of Health. https://www.niddk.nih.gov/
  2. Celiac Disease Foundation. (2023). What is Celiac Disease? https://celiac.org/
  3. Mayo Clinic. (2022, October 28). Celiac disease. https://www.mayoclinic.org/diseases-conditions/celiac-disease/symptoms-causes/syc-20352220
  4. National Institute of Child Health and Human Development. (2022, August). Celiac Disease. National Institutes of Health. https://www.ncbi.nlm.nih.gov/books/NBK441900/
  5. National Institutes of Health. (n.d.). Genetic Testing for Celiac Disease. National Institutes of Health. https://easy-dna.com/celiac-disease-genetic-testing/
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