Down syndrome is a genetic disorder that occurs in 1 in 600-700 pregnancies. It is caused by the presence of an extra copy of chromosome 21, (trisomy of pair 21), so that people with Down syndrome have 47 chromosomes instead of 46. Precisely in couple 21, we can find some of the related genes with the immune system. Therefore this could be the reason why the population with Down syndrome is more prone to autoimmune diseases.

Fig. 1 Trisomy, chromosome 21. Taken from Alan E. Guttmacher, 2020.

The most commonly diagnosed autoimmune disorders include: hypothyroidism, type 1 diabetes, and celiac disease. Thus, people with Down syndrome are at higher risk for these disorders due to their weak immune response and abnormalities in the immune system.


Diagnosis of Celiac Disease

“Children with Down syndrome are up to six times more likely to develop Celiac Disease than the general population.”

Since 2012, the Ministerio de Sanidad, Servicios Sociales e Igualdad advised including Down Syndrome as a risk group within the Protocol for Early Diagnosis of Celiac Disease. This is due to the high incidence of this disease in this population. While Celiac Disease affects 1% of the population with genetic disposition, its incidence rises up to 12% in the population with Down Syndrome. That is why it is advisable to carry out diagnostic tests for Celiac Disease at an early age.


After diagnosis

Once the diagnosis is confirmed, all information about Celiac Disease should be communicated as soon as possible to the child, young person or adult with Down syndrome.

Most importantly, they should be taught to distinguish between what they can and cannot eat, as well as the health consequences of eating foods with gluten. Special attention should be paid:

  • In the first moments after the diagnosis, since you will need more support and vigilance, which will be withdrawn when verifying that you are responsible for your diet.
  • During adolescence, as an age of change, you will need more guidance and support since, in general, this moment is associated with worse control of the disease.



Alan Edward Guttmacher, M.D (15 de marzo de 2021). Sindrome de Down (Trisomía del 21). National Human Genome Research Institut.