What Is Celiac Disease? Symptoms, Diagnosis and Treatment

Created: 16.01.2023 · Last Updated: 21.08.2026 · Category: Pediatric Gastroenterology · Prepared by the Academic Hospital Web and Editorial Board.

What Is Celiac Disease?

Celiac disease is a chronic immune-mediated disorder triggered by gluten consumption in genetically susceptible individuals.

The immune response can damage the lining of the small intestine, impair nutrient absorption and cause a wide range of gastrointestinal and extraintestinal manifestations.

Celiac disease is not limited to childhood and does not always cause diarrhea. It may develop during childhood, adolescence or adulthood, and some people have few or no obvious digestive symptoms.

What Is Gluten?

Gluten is the general term for proteins found primarily in wheat, barley and rye.

In people with celiac disease, gluten triggers an abnormal immune response that can damage the lining of the small intestine.

Celiac disease is not the same as wheat allergy or a simple food intolerance. It is a chronic immune-mediated disease triggered by gluten.

What Are the Symptoms of Celiac Disease in Children?

Symptoms vary considerably between children. Gastrointestinal symptoms may predominate in some children, while others present with growth problems, anemia or extraintestinal manifestations.

Possible symptoms include:

  • Chronic or recurrent diarrhea
  • Constipation
  • Abdominal pain and bloating
  • Nausea or vomiting
  • Poor weight gain or weight loss
  • Poor growth or short stature
  • Iron-deficiency anemia
  • Fatigue
  • Delayed puberty
  • Dental enamel defects

Some children with celiac disease may have no obvious symptoms.

At What Age Can Celiac Disease Develop?

Celiac disease can develop at any age after gluten has been introduced into the diet.

It should therefore not be regarded as a disease that usually begins only after 18 months or 2 years of age.

Some children develop symptoms early, while others remain asymptomatic for years and are diagnosed during adolescence or adulthood.

Who Is at Higher Risk of Celiac Disease?

Genetic susceptibility plays an important role. People with a first-degree relative with celiac disease have a higher risk than the general population.

Testing may also be considered in people with:

  • A parent, sibling or child with celiac disease
  • Type 1 diabetes
  • Certain autoimmune thyroid disorders
  • Selective IgA deficiency
  • Certain associated genetic conditions, including Down, Turner or Williams syndrome

The need and timing for testing should be individualised according to age, symptoms and risk factors.

How Can Celiac Disease Present?

Rather than dividing celiac disease into rigid categories such as “classical, late, atypical and silent,” it is more useful to recognise its broad clinical spectrum.

Gastrointestinal manifestations can include chronic diarrhea, bulky or fatty stools, abdominal bloating, abdominal pain, nausea, vomiting and constipation.

Extraintestinal manifestations may include iron-deficiency anemia, poor growth, delayed puberty, bone-health problems, fatigue, dental enamel defects and dermatitis herpetiformis.

Some people have no apparent symptoms and are identified through testing because of a family history or another risk factor.

The absence of diarrhea does not rule out celiac disease. Iron deficiency, poor growth and other unexplained extraintestinal findings can be presenting features.

How Is Celiac Disease Diagnosed?

Diagnosis is based on clinical features, family history, blood testing and, when required, biopsies from the small intestine.

Initial serological testing in children generally includes:

  • tTG-IgA (tissue transglutaminase IgA)
  • Total IgA

When IgA deficiency is present, IgG-based celiac serology may be required.

HLA-DQ2 and HLA-DQ8 genetic testing can help exclude celiac disease in selected uncertain cases. A positive HLA result does not confirm celiac disease, whereas absence of the relevant HLA types makes the diagnosis very unlikely.

Is an Intestinal Biopsy Always Required?

No. A biopsy is not mandatory for every child being diagnosed with celiac disease.

According to ESPGHAN pediatric criteria, selected children may be diagnosed without a biopsy when tTG-IgA is at least 10 times the upper limit of normal and EMA-IgA is positive in a second blood sample, following evaluation by a pediatric gastroenterologist and shared decision-making with the family.

If tTG-IgA is below 10 times the upper limit of normal or the no-biopsy criteria are not met, upper gastrointestinal endoscopy with duodenal biopsies may be required.

In adults, small-bowel biopsy remains an important part of diagnostic confirmation for most patients.

A no-biopsy diagnosis should not be made simply because a blood test result is high. All diagnostic criteria must be met and evaluated by an appropriate specialist.

Should Gluten Be Stopped Before Celiac Testing?

No. If celiac disease is suspected, a gluten-free diet should not be started before diagnostic testing is completed.

Removing gluten from the diet can lower celiac antibody levels and allow intestinal abnormalities to begin healing. This can affect blood-test and biopsy results and make diagnosis more difficult.

Gluten intake during the diagnostic process should therefore be discussed with the treating healthcare professional.

How Is Celiac Disease Treated?

The main treatment for celiac disease is a strict lifelong gluten-free diet.

Removing gluten allows the abnormal immune response to settle and the small-intestinal lining to heal. Symptoms may improve relatively quickly, while full intestinal recovery can take longer.

A gluten-free diet involves more than simply avoiding bread and pasta. All relevant gluten sources and the risk of cross-contact need to be considered.

What Should Be Considered in a Gluten-Free Diet?

People with celiac disease need to avoid foods containing wheat, barley and rye.

Naturally gluten-free foods can include:

  • Rice
  • Corn
  • Potatoes
  • Buckwheat
  • Quinoa
  • Legumes
  • Meat, fish and eggs
  • Fruit and vegetables

Food labels should be checked carefully, and cross-contact with gluten during food production and preparation should be considered.

Support from a dietitian experienced in celiac disease can help maintain a nutritionally balanced diet while avoiding unnecessary dietary restrictions.

Why Is Follow-Up Important?

Long-term follow-up helps assess dietary adherence, growth, symptoms and possible nutritional deficiencies.

Depending on the patient, follow-up may include assessment of:

  • Celiac serology
  • Complete blood count and iron status
  • Vitamin and mineral deficiencies
  • Liver tests
  • Growth and development in children
  • Dietary adherence and possible gluten exposure

Diagnosis Should Come Before Starting a Gluten-Free Diet

Starting a gluten-free diet too early can affect celiac test results. When celiac disease is suspected, blood tests and other appropriate investigations should be planned while gluten is still being consumed.

Frequently Asked Questions

What is celiac disease?
Celiac disease is a chronic immune-mediated disorder triggered by gluten consumption in genetically susceptible individuals and can particularly affect the small intestine.
Can celiac disease develop at any age?
Yes. Celiac disease can develop at any age during childhood, adolescence or adulthood after gluten-containing foods have been introduced into the diet.
Should I start a gluten-free diet before celiac testing?
No. If celiac disease is suspected, a gluten-free diet should not be started before diagnostic testing is completed. Removing gluten can affect blood-test and intestinal-biopsy results.
Is a biopsy always required to diagnose celiac disease?
No. In selected children, a no-biopsy diagnosis may be possible when tTG-IgA is at least 10 times the upper limit of normal and EMA-IgA is confirmed positive in a second blood sample, following specialist assessment. Other patients may require a biopsy.
Is treatment for celiac disease lifelong?
Yes. The main treatment for celiac disease is a strict lifelong gluten-free diet. Maintaining the diet is important for controlling symptoms and protecting small-intestinal health.
Can celiac disease cause no symptoms?
Yes. Some people have no obvious gastrointestinal or other symptoms. Celiac disease may sometimes be identified during family screening or testing performed for another reason.
Should people with a family history of celiac disease be tested?
People with a first-degree relative with celiac disease have a higher risk than the general population. It is appropriate to discuss the need for testing with a healthcare professional even when there are no symptoms.
Academic Hospital note: Celiac disease should not be assessed solely on symptoms or a single laboratory result. Diagnostic testing should be performed while gluten is still being consumed, and results should be evaluated by a pediatric gastroenterologist or gastroenterologist. You can book an appointment.

References

  1. Academic Hospital. What Is Celiac Disease?
  2. Rubio-Tapia A, et al. American College of Gastroenterology Guidelines Update: Diagnosis and Management of Celiac Disease
  3. Husby S, et al. ESPGHAN Guidelines for Diagnosing Coeliac Disease 2020
  4. National Institute of Diabetes and Digestive and Kidney Diseases. Diagnosis of Celiac Disease
  5. National Institute of Diabetes and Digestive and Kidney Diseases. Treatment for Celiac Disease