Oct 24, 2019, 10:33:57 AM CDT Jan 30, 2023, 12:05:43 PM CST

Understanding the causes of celiac disease

A pediatric celiac disease expert explains celiac disease risk factors in children

Mother and daughter at doctor Mother and daughter at doctor

Celiac disease is a serious condition that affects about 1 in 133 people, approximately 1% of the population. And more than 2 million people are undiagnosed – putting them at risk of future complications.

Many people have a sensitivity to different foods, but celiac disease is more than that – it's an autoimmune disorder that can damage the small intestine. While anybody at any age can develop celiac disease, certain groups of people are at higher risk. Learn more about causes and risk factors of celiac disease.

What causes celiac disease?

Celiac disease is an autoimmune inflammatory disease of the small intestine that is triggered by eating gluten, a protein in wheat, rye and barley, in those who are genetically predisposed. While there is no single known cause of celiac disease, research shows that there is a strong genetic component and that certain individuals are at increased risk.

"Causes of celiac disease are multifactorial," explains Michele Alkalay, M.D., Director of the Childhood Celiac Disease Program at Children's Health℠ and Assistant Professor at UT Southwestern. "We know there are important genetic factors, and that autoimmunity and environmental factors like gluten exposure play a role. There are also known high risk groups that have a high prevalence of celiac disease."

Genetic factors and celiac disease

Celiac disease is hereditary and can run in families. This does not mean that a child will automatically get celiac disease if a parent has the condition, but it does mean the child is at increased risk. A first-degree relative of a person with celiac disease has an approximate 8% chance of being diagnosed.

Research has also found than 99% of individuals with celiac disease carry the human leukocyte antigen, HLA-DQ2 and HLA-DQ8 gene, compared to 40% of the general population.

"While the presence of HLA-DQ2 or DQ8 genotype is essential to get the disease, it is not sufficient by itself and other factors play a role," Dr. Alkalay explains. "We know they have that gene, we're just not sure exactly what turns it on."

Environmental factors and celiac disease

Research continues to focus on the broader connection between environmental factors and celiac disease. While gluten is the environmental factor that triggers the disease, other factors also play a role.

Gluten is usually introduced between the ages of 4-6 months of age when babies are fed cereals. Because of this, celiac disease doesn't present earlier than this age. At one time, the introduction of gluten (either early or delayed) and breastfeeding were thought to be protective against celiac disease. However, according to two large multi-center studies, none of these factors protected an individual.

One recent study found that higher amounts of gluten intake during the first five years of life was associated with an increase in celiac disease for genetically predisposed children. "This may be concerning for parents, but it's important to understand that this study looked at only those children who were already at increased risk," explains Dr. Alkalay. "Genetics and other risk factors should always be considered."

High-risk groups for celiac disease

Autoimmunity also plays a role in celiac disease. Children with autoimmune diseases such as type 1 diabetes and autoimmune thyroid disease are at increased risk for celiac disease. Approximately 3% of these patients develop celiac disease.

"Autoimmune means that the body produces antibodies which attack itself and damages its own tissue with an overactive immune system," says Dr. Alkalay. "Because of this, their immune system is already on autopilot, putting them at a higher risk for other autoimmune disorders. The same is true for those children with celiac disease – they are at a higher risk for developing other autoimmune diseases."

In addition to children with a family history of celiac disease or children with an existing autoimmune disease, there are several other high-risk groups who are more susceptible to celiac disease. Other high-risk groups for celiac disease include children with:

For these groups, the risk of developing celiac disease is approximately 3-10 times higher than the general population. Because of the risk factors, children diagnosed with these conditions should be screened for antibodies, even if these children have no symptoms.

Understanding when to screen for celiac disease

Screening for celiac disease in children with no symptoms or genetic factors is usually not performed. "If a child has a first-degree relative with celiac disease and the child experiences symptoms or is in a high-risk group, we will screen as early as 2 years of age," says Dr. Alkalay.

Many parents wonder if they should screen other siblings for celiac disease. The answer depends on whether the sibling is experiencing symptoms. If so, the sibling should be screened while having symptoms and no earlier than the age of 2. This is because antibodies can trigger a higher false-negative when a child is younger than 5 years old and especially younger than 2 years old.

For parents who may be worried that their child is showing signs of celiac disease or is at risk, talk to your pediatrician about your concerns. "We don't recommend limiting gluten except in children diagnosed with celiac disease," says Dr. Alkalay. "Wheat has fiber and nutrients that are beneficial in our diet. If there is a family history of celiac disease and your child has symptoms, we can screen for the condition."

Additional resource: How to create a 504 plan for celiac disease

Creating a 504 plan is an important part of keeping a child with celiac disease safe and healthy in the classroom. Download our step-by-step guide to 504 plans and other important resources for celiac disease. Download now.

Learn more

The Childhood Celiac Disease Program at Children's Health is the only medical pediatric celiac program in North Texas. Learn more about our multidisciplinary clinic dedicated to celiac disease care.

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