Celiac Disease

What is Celiac Disease? Celiac disease is an autoimmune disorder characterized by injury to enterocytes of the small intestine. Over 1% of the population has celiac disorder, and while the incidence rate is increasing, the increase has been found to be the result of greater awareness and the development of serological testing. Celiac disease can develop at any stage of life.

What Causes Celiac Disease?

The pathomechanism of celiac disease is associated with inflammation caused in response to exposure to gliadin peptide found in gluten. The gliadin is presented to the immune system by MHC proteins on antigen-presenting cells which are encoded by the HLA system. The inflammation leads to destruction of the villi in the small intestine. This loss of the villi decreases the absorption of nutrients and results in many of the systemic symptoms of the disease.

Risk factors associated with celiac disease include:

  • Positive family history of celiac disease.
  • HLA haplotypes DQ2 or DQ8.
  • Diagnosis of Diabetes Type I or other autoimmune disorders.
  • Diagnosis of comorbid genetic disorders, such as Down’s syndrome, Turner Syndrome, Williams syndrome, and selective IgA deficiency. 
  • History of early childhood gastrointestinal infection.
  • Environmental factors, such as early introduction of gluten in the diet.

Symptoms of Celiac Disease

  • Diarrhea with or without steatorrhea.
  • Weight loss or growth failure in children.
  • Abdominal symptoms of constipation, abdominal pain, or bloating.
  • Nutritional deficiencies leading to fatigue, iron deficiency anemia, and neurologic symptoms.

Source: Lebwohl, B., & Rubio-Tapia, A. (2021). Epidemiology, Presentation, and Diagnosis of Celiac Disease. Gastroenterology, 160(1), 63–75. https://doi.org/10.1053/j.gastro.2020.06.098