Celiac disease is an autoimmune disease prevalent in adults as well as children who are genetically susceptible. Affected individuals are intolerant to the protein, gluten, which is present in wheat, barley, and rye.  It is prevalent in approximately 1 % of the United States population and has also been detected in Europe, Middle East, and Asia. The diagnosis of the disease in children depends on blood tests and an intestinal biopsy.
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Epidemiology of Celiac Disease in Children

Celiac disease affects one in 100 people all over the world. It is hereditary and an individual with a first-degree relative suffering from celiac disease has a 1 in 10 probability of having the disease. In children, the onset of the celiac disease is between the ages of 9 to 18 months of age with a female preponderance.

Etiopathogenesis of Celiac Disease in Children

Celiac disease is an autoimmune disease associated with an autoantigen to the transglutaminase enzyme. It is associated with HLA DQ2 (haplotypes DR 17 and DR 5/7) as well as DQ8 (haplotype DR 4). The protein gluten is the main trigger of celiac disease which mainly involves the mucosa of the duodenum. On histology, typical changes in celiac disease include atrophy of the villi, hyperplasia of the crypts and intraepithelial lymphocytosis. Based on the histology, celiac disease has been classified as:

  • Type 0 = normal mucosa
  • Type 1 = elevated numbers of intraepithelial lymphocytes or infiltrative lesion
  • Type 2 = hyperplasia of the crypts
  • Type 3 =  all the above in advanced stage and destructive lesion

Clinical Manifestations of Celiac Disease in Children

The manifestations of celiac disease vary from no symptoms to minimal symptoms to severe symptoms. Older children are usually asymptomatic or have minimal symptoms such as nausea, abdominal discomfort, bloating and alternating constipation and diarrhea.

Therefore the diagnosis can be challenging. One-third of children with celiac disease will have mainly gastrointestinal symptoms. The onset of symptoms is usually after the child is started on foods containing gluten.

Common symptoms include:

  • Irritability and introverted nature
  • Loss of appetite and discomfort after consuming gluten containing food
  • Growth retardation or failure to thrive: approximately 10% of children who have no other demonstrable cause for growth delays may actually suffer from celiac disease. Delay in weight gain and height gain is noted in infants and toddlers.
  • Abdominal distension with bloating
  • Diarrhea or constipation
  • Vomiting
  • Fatigability
  • Anemia is the most common presentation in older children and adolescents
  • Celiac crisis is rare and is characterized by severe watery diarrhea, abdominal distension, hypotension, dehydration, electrolyte abnormalities, especially hypokalemia.

Extra-intestinal manifestations of celiac disease are:

  • Anemia due to iron, folate or vitamin B12 deficiency. The iron deficiency anemia is resistant to oral iron therapy
  • Skin rash or dermatitis herpetiformis
  • Changes in tooth enamel with hypoplasia affecting permanent teeth.
  • Delayed eruption of teeth probably secondary to malnutrition
  • Aphthous ulcers
  • Osteoporosis and osteopenia is noticed in 50% of children with celiac disease and this improves markedly after a year of gluten free diet
  • Delayed onset of puberty
  • Small stature
  • Lactose intolerance
  • Nutritional deficiencies e.g. vitamins and minerals
  • Pancreatic insufficiencies
  • Gastrointestinal malignancies and lymphomas
  • Dysfunctional gall bladder
  • Infertility
  • Neurological problems e.g. ataxia, seizures, migraine, neuropathies, myopathies, dementia are less prevalent in children compared to adults

Conditions Associated with Celiac Disease in Children

Other autoimmune diseases can occasionally co-exist in patients with celiac disease. These are autoimmune thyroiditis, autoimmune hepatitis, juvenile arthritis, primary biliary cirrhosis, Sjogren’s disease, and Type I diabetes mellitus.

Down’s, Turner’s and William’s syndrome are also known to be associated with celiac disease.

Workup of Celiac Disease in Children

The diagnosis of this disease in children is based on history, clinical examination, serological testing and intestinal biopsy. On clinical examination, children may have Oral Aphthous ulcers, dry mucous membranes (in presence of excessive diarrhea or vomiting), hypoplasia of the dental enamel, delayed dental eruption, abdominal bloating, short stature, pallor and rarely wasting of muscles.

Routine lab workup

Complete blood count is likely to reveal iron deficiency anemia while electrolyte imbalance may be present in children with severe diarrhea.

Serological testing

Levels of anti-tissue transglutaminase and anti-endomysial antibody are determined as both tests have a high sensitivity and specificity. In children under the age of two years, serological tests can be inconclusive.


Findings of barium follow through can be nonspecific or may show bowel wall edema and are therefore not routinely performed.


An endoscopic distal duodenal biopsy is performed to obtain four samples of tissue. Two samples are also obtained from duodenal bulb. Rarely colonoscopy is performed if there is a history of hematochezia.

European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of Celiac Disease in Children

Group 1: Patients are diagnosed based on their symptoms, positive serology and histology of duodenal biopsy specimens. However, if the IgA anti-tissue transglutaminase type II antibody titers are more than 10 times the normal, then duodenal biopsies need not be performed.

Group 2: The diagnosis is based on positive serology and histological findings.

Treatment of Celiac Disease in Children

The mainstay of treatment is a diet devoid of gluten containing foods for the child’s entire lifetime. They should avoid wheat, rye, barley-containing foods such as bread and cookies. Even tiny amounts of gluten can trigger symptoms and hence it is advisable to consume a gluten-free diet.

In children, gastrointestinal symptoms have been reported to resolve within a few weeks of a gluten-free diet and they may be able to attain a normal height and weight with improvement in anemia.

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