Celiac disease is often diagnosed in childhood, but when kids have atypical or “silent” symptoms, diagnosis can be missed — with a potential for poor health outcomes and complications. Unfortunately, “silent celiac” or asymptomatic celiac is quite common, meaning parents should be on the lookout for less obvious signs and symptoms that may help in getting their children the screening and treatment they need.

What is celiac disease?

Celiac disease is a genetically determined autoimmune condition that is triggered by exposure to gluten and related proteins — a trigger that almost all of us experience when we’re introduced to solid foods as infants. While most people think of celiac as a gastrointestinal disease, it is actually a systemic condition that impacts many bodily functions.

Globally, around one in 100 people are estimated to have celiac disease, while prevalence is much higher in some populations. For example, the Saharawi people of Western Sahara have the highest known prevalence rate of any ethnic group, with approximately one in 18 Saharawis having celiac disease.

What are the symptoms of celiac disease in kids?

kid eating donut
Celiac disease is one of most prevalent yet underdiagnosed genetically determined autoimmune conditions in humans.
The most common symptoms of celiac disease can include some or all of the following:

  • diarrhea
  • constipation
  • nausea and vomiting
  • abdominal pain
  • bloating
  • weight loss or failure to thrive

Non-gastrointestinal (GI) symptoms can include some or all of the following:

  • fatigue/lethargy
  • dermatitis herpetiformis (a bumpy, itchy skin rash)
  • unexplained short stature
  • delayed puberty
  • vitamin deficiencies
  • iron-deficiency anemia
  • stiff joints and arthritis
  • headaches
  • cognitive impairment
  • recurrent mouth ulcers

For some, undiagnosed celiac disease can present as a “celiac crisis” where a young patient requires emergency care for severe diarrhea, dehydration and electrolyte imbalance.

It’s not uncommon for children to initially display the more “classic” GI symptoms, which can range from mild to severe, and then develop non-GI symptoms over time.

When should my child get tested for celiac disease?

If your child has any of the above symptoms, it’s best to talk with a family doctor to discuss celiac testing options.

Children with the following should also be tested:

  • Has a first degree relative with celiac disease, such as a sibling or parent
  • Has been diagnosed with certain autoimmune conditions, such as type 1 diabetes (T1D) or autoimmune thyroid disease (One in six to one in 10 individuals with T1D have celiac disease, yet most have asymptomatic or “silent celiac”!)
  • Has immunoglobulin A (IgA) deficiency
  • Has Down syndrome, Turner syndrome, or Williams syndrome
  • Displayed expected growth until the introduction of gluten-containing solid foods between six and 12 months of age, when weight and height velocity unexpectedly decreased

Children with lactose intolerance may also benefit from celiac testing, since secondary lactase deficiency can result from damage to the intestinal lining commonly seen in celiac disease.

Celiac screening usually begins with a blood test to check for certain antibodies that indicate possible immune reaction to gluten. The blood test helps determine whether an intestinal biopsy — the gold standard for celiac diagnosis — is required. Several patients test negative during screening, but are still scheduled for a biopsy due to ongoing, unexplained symptoms.

In some locations, genetic testing can be done to check for the two haplotypes, or groups of genes, associated with celiac disease — HLA-DQ2 and HLA-DQ8. A person without these haplotypes can be virtually excluded from having the condition. However, simply having HLA-DQ2 or HLA-DQ8 does not mean the person can be automatically diagnosed with celiac disease. Roughly 40 per cent of Americans carry celiac haplotypes, for example, but only around one per cent develop celiac disease.

What risks are associated with undiagnosed or untreated celiac disease?

Children with undiagnosed or untreated celiac disease are at risk for malabsorption and malnutrition, which affects the function of all organ systems. They are also at risk for developing:

  • reduced ability to fight infections
  • osteoporosis
  • additional autoimmune disorders (e.g., multiple sclerosis)
  • infertility later in life
  • seizure disorders (e.g., epilepsy)
  • decreased response to hepatitis B vaccine
  • peripheral nerve damage, resulting in tingling or pain in hands and feet

Enteropathy-associated T-cell lymphoma has also been linked to undiagnosed or untreated celiac disease.

In individuals with type 1 diabetes, undiagnosed or untreated celiac disease is associated with additional poor health outcomes, such as circulatory system complications.

What is the most important thing to remember before celiac testing?

family eating gluten free meal
The only treatment for celiac disease is maintaining a strict gluten-free diet.
Some parents will put their child on a gluten-free diet as a way to see if gluten is the cause of certain chronic symptoms. However, many people can react badly to gluten, such as those with irritable bowel syndrome, lactose malabsorption, wheat allergy and other conditions. This means that trialing a gluten-free diet before getting your child screened and tested for celiac is not an appropriate way to test for celiac disease.

For celiac screening and testing to work — whether it’s a blood test or biopsy — the patient must continue to maintain their usual gluten-containing diet. When gluten is removed from the diet, even for a short time, celiac screening and testing can result in false negatives — when a test falsely indicates that the patient does not have celiac disease.

My child tested positive for celiac disease. Now what?

Once a child tests positive for celiac disease, the child should begin lifelong adherence to a gluten-free diet. The family should receive consultation with a skilled dietitian to learn how to plan nutritious gluten-free meals and read nutrition and ingredient labels. Vitamin and mineral deficiencies should be treated and long-term follow-up care with a multidisciplinary health-care team should be planned.

Many patients and their families impacted by celiac disease benefit from membership in advocacy groups — both online and in person. These groups offer emotional support and provide educational materials on celiac disease and gluten-free dining.


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