Which are the causes of Celiac Disease?

Celiac disease is caused by an abnormal immune response to the ingestion of gluten, a protein found in wheat, barley, and rye, which occurs in genetically susceptible individuals.

The Mechanism of Celiac Disease

At its core, Celiac disease is an autoimmune condition where the body’s defense system mistakenly identifies gluten as a dangerous invader. When someone with this condition consumes gluten, their immune system launches an attack on the small intestine, specifically damaging the villi—the tiny, finger-like projections responsible for absorbing nutrients. This inflammation prevents the body from properly processing food, leading to the systemic symptoms associated with Celiac disease.

Genetic and Environmental Factors

The development of Celiac disease requires a specific genetic foundation. Almost all patients carry the HLA-DQ2 or HLA-DQ8 genes. However, possessing these genes does not guarantee the development of the disease; they are necessary but not sufficient. Environmental triggers act as the "key" that unlocks the condition. While dietary gluten is the primary trigger, researchers are actively investigating other factors, such as viral infections in early childhood, changes in the gut microbiome, and the timing of gluten introduction in an infant's diet, which may influence the onset of Celiac disease.

Causes vs. Risk Factors

It is important to distinguish between a cause and a risk factor. The "cause" is the interaction between gluten and the immune system in a genetically primed body. "Risk factors" are elements that increase the likelihood of the disease manifesting, such as having a first-degree relative with the condition or having other autoimmune disorders like Type 1 diabetes. While the underlying autoimmune nature of Celiac disease is well-understood, global research continues to explore why some individuals with the genetic markers never develop the disease, while others do.

Medical Disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: The portal for rare diseases and orphan drugs


• Celiac Disease Foundation


• Online Mendelian Inheritance in Man (OMIM)