Celiac disease in children

What is Celiac Disease?

Celiac disease is an autoimmune condition, meaning it occurs when the body’s immune system mistakenly attacks its own tissues. The disease is triggered by exposure to gluten and results from a combination of genetic and environmental factors.

Gluten is a protein found in wheat, barley, and rye. Celiac disease can only develop in individuals who have been exposed to gluten. Without exposure to gluten-containing foods, the condition will not manifest.

What Does Celiac Disease Cause?

In children with celiac disease, consuming gluten leads to an immune response that damages the mucosal lining of the small intestine. This damage impairs the absorption of essential nutrients, which can result in a wide range of symptoms and complications due to nutritional deficiencies.

What Are the Signs and Symptoms of Celiac Disease in Children?

Historically, a typical sign of celiac disease in children was a large, distended abdomen. However, with increased awareness and earlier diagnosis, this presentation has become less common. Today, celiac disease is often identified earlier and may present with a wide range of symptoms—or none at all.

Some children are completely asymptomatic, while others may present with non-specific symptoms such as abdominal pain, diarrhea, or constipation (we have an excellent chapter on constipation in children). Nutritional deficiencies are also common—especially iron deficiency anemia (learn more here)—as well as delayed growth (decreased weight or height percentiles), impaired bone density, vomiting, hair loss in patches, and more.

Thanks to growing awareness, more pediatricians are conducting screening blood tests for celiac disease, leading to earlier diagnoses—even in children with mild or no symptoms. Celiac disease is more prevalent among first-degree relatives (parents and siblings). In many cases, after one child is diagnosed, a sibling or parent is also tested and found to have the disease, often without having shown any symptoms.

This highlights the importance of considering celiac disease not only in high-risk populations but potentially in broader screening efforts, as discussed further below.

How Common Is Celiac Disease in the General Population?

Celiac disease is estimated to affect approximately 1% of the general population. This means that in every school, there are likely several children with celiac disease—some already diagnosed, and others who remain undiagnosed. Often, diagnosed cases are referred to as just “the tip of the iceberg,” highlighting the large number of undiagnosed individuals.

Celiac disease is more commonly diagnosed in females.

Who Is at High Risk of Developing Celiac Disease?

There are specific groups in which the prevalence of celiac disease is significantly higher, making routine screening advisable. These high-risk groups include:

• First-degree relatives of individuals with celiac disease
• Children with IgA deficiency
• Children with other autoimmune disorders, such as autoimmune thyroid disease, type 1 diabetes, juvenile arthritis, etc.
• Children with certain genetic syndromes, including Down syndrome, Turner syndrome, and Williams syndrome

Who Should Be Tested for Celiac Disease?

Due to its high prevalence and diverse clinical presentations, celiac disease should be considered in the following scenarios (in addition to the high-risk groups listed above):

1. Children presenting with gastrointestinal symptoms such as chronic or intermittent diarrhea, chronic constipation unresponsive to treatment, abdominal pain or distention, nausea, or recurrent vomiting.
2. Children exhibiting non-gastrointestinal symptoms, including:
   • Weight loss or failure to thrive
   • Growth delays or delayed puberty
   • Chronic fatigue or irritability
   • Joint pain
   • Iron deficiency anemia
   • Reduced bone density or recurrent fractures
   • Recurrent aphthous ulcers (more information here)
   • Specific skin rashes (such as chronic urticaria)
   • Dental enamel defects
   • Unexplained liver enzyme abnormalities

It is important to note that the presence of one or more of these symptoms does not necessarily indicate celiac disease, but it does warrant further evaluation. Given the simple nature of initial screening (typically a blood test), testing should always be discussed with your pediatrician.

Additionally, we recently summarized an Italian study on the benefits of universal screening for celiac disease in children, regardless of the presence of symptoms. You can read more about this study and its findings here.

Celiac and Inheritance

Celiac disease develops in individuals with a genetic predisposition—specifically those carrying the HLA-DQ2 or HLA-DQ8 genes. However, genetics alone are not enough to trigger the disease; environmental factors are also necessary. Although 30–40% of the general population carries these genes, only about 1% will develop celiac disease. This explains why most family members of someone with celiac do not develop the condition themselves.

How Is Celiac Disease Diagnosed?

Celiac disease is diagnosed by a pediatric gastroenterologist, but initial testing often begins with a general pediatrician. This typically involves a blood test to measure anti-TTG and anti-EMA antibodies, both of which are IgA-based. Because IgA deficiency is more common in individuals with celiac disease, it’s important to measure total IgA levels alongside celiac antibodies to avoid false-negative results.

In children with IgA deficiency, diagnosis is based on IgG antibodies—specifically anti-DGP antibodies. The type and quantity of antibodies help determine whether celiac disease is suspected. Importantly, screening can begin with a single, simple blood test.

Is a Gastroscopy and Biopsy Always Required?

Until several years ago, diagnosis required gastroscopy—a procedure in which a flexible tube is passed through the mouth into the stomach and duodenum, allowing biopsies to be taken from the small intestine. In celiac patients, the biopsies typically reveal flattened intestinal villi.

However, it’s essential that the child continues to consume gluten up to the time of testing. Removing gluten too early can skew results and make diagnosis difficult.

Recent European guidelines allow for diagnosis without gastroscopy in certain cases, based on antibody levels, symptoms, and sometimes genetic testing. The latest 2020 guidelines go further—permitting diagnosis without biopsy or genetic testing, even in asymptomatic children, when specific conditions are met.

That said, celiac is a lifelong diagnosis. Once a child begins a gluten-free diet, confirming the diagnosis later becomes challenging. Therefore, consultation with a pediatric gastroenterologist is highly recommended to ensure the most accurate approach.

Can Celiac Disease Be Diagnosed at Any Age?

Yes. Celiac disease can be diagnosed at any age and is sometimes first identified in a parent after their child is diagnosed. A negative test in an at-risk child (such as a sibling) is reassuring but does not eliminate future risk. These children should be screened yearly until at least age 12.

Testing is also less reliable in infants under 18 months. In such cases, if the clinical suspicion is high despite negative results, the tests should be repeated at a later stage.

Should Celiac Be Tested for More Than Once?

Certainly. When there is clinical suspicion, the blood test should be repeated. A single negative result, especially at a young age, does not rule out the possibility of developing the disease later.

What Is Potential Celiac Disease?

This refers to a condition in which typical celiac disease antibodies are found in the blood, but the intestinal biopsy appears normal or inconclusive. These children have the potential to develop full-blown celiac disease in the future. They require follow-up by a pediatric gastroenterologist, while continuing to consume gluten. If antibody levels remain elevated or rise, a second gastroscopy is usually performed.

What Are the Genetic Tests for Celiac Disease?

As mentioned, celiac disease is associated with specific HLA gene types—DQ2 and DQ8—found in about 30–40% of the general population. A positive result only indicates potential, not a definitive diagnosis. However, a negative genetic test (absence of HLA-DQ2/DQ8) makes celiac disease very unlikely.
These tests help rule out the disease but are not useful for confirming it, and therefore are not commonly used in children.

What Is the Treatment for Celiac Disease?

The treatment is a strict, lifelong gluten-free diet. Though not a medication, this dietary change is entirely therapeutic. It is essential to educate both the child and family on how to identify gluten in food products.

Fortunately, gluten-free options are increasingly available. It’s important to consume only products labeled “gluten-free,” meaning they contain less than 20 parts per million (PPM) of gluten. Products labeled “may contain gluten” should be avoided.

Oatmeal can be problematic as well. People with celiac disease should initially avoid oats and only introduce oats that are certified gluten-free after symptoms resolve and antibody levels normalize.

Nutritional deficiencies are also evaluated, and supplements are given as needed.

Poorly controlled celiac disease is associated with an increased risk of lymphoma and other autoimmune diseases. A strict gluten-free diet not only reverses intestinal damage but also significantly lowers these risks.

Is the Damage Caused by Celiac Disease Reversible?

Yes. A gluten-free diet enables full recovery of the small intestine’s mucosal lining. Although it requires a significant lifestyle change, this healing is achievable. Even small, brief exposures to gluten—regardless of whether they raise antibody levels—can have adverse effects. Consistency is key.

Can Celiac Disease Be Transient?

No. Celiac disease is a lifelong condition. Once diagnosed, the autoimmune reaction will resume with any future gluten exposure. Symptoms may disappear with treatment, but the underlying condition persists. Poorly managed celiac disease can lead to complications affecting bones, growth, fertility, and more. A lifelong gluten-free diet is essential.

Do Celiac Patients Require Follow-Up?

Absolutely. Children diagnosed with celiac disease should be followed regularly by a gastroenterologist—typically every 6 to 12 months. Follow-up includes antibody testing and nutritional assessments to ensure proper disease management and recovery.

Are There Medications Celiac Patients Should Avoid?

Celiac patients do not need to avoid medications in general. However, concerns sometimes arise due to inactive ingredients like wheat starch. That said, medications sold in Western countries contain such small traces of gluten (if any) that they are considered safe for individuals with celiac disease.

In Summary, healthcare providers should maintain a high index of suspicion for celiac disease. Increased awareness and routine screening allow for early diagnosis and better outcomes. Children who maintain a strict gluten-free diet can live full, healthy lives.

Over recent years, both parents and pediatricians have become more aware of celiac disease, which has led to earlier diagnoses. However, many children and adults remain undiagnosed.
It’s worth checking whether your child has ever been screened for celiac disease. If not, consult your pediatrician and make an informed decision—because in most cases, early testing is absolutely worthwhile.