What are the clinical manifestations of celiac disease (CD) in pediatric patients?

From the Guidelines

Celiac disease in pediatric patients typically presents with symptoms such as diarrhea, abdominal pain, fatigue, irritability, and failure to thrive or weight loss, and can also lead to unpredictable blood glucose levels and hypoglycemia in those with type 1 diabetes. The clinical manifestations of celiac disease (CD) in pediatric patients can vary widely, ranging from classic symptoms like gastrointestinal issues and malabsorption to more subtle signs such as chronic fatigue, irritability, and inability to concentrate 1. It's essential to note that some pediatric patients with CD may be asymptomatic or present with non-classical symptoms, making diagnosis more challenging 1.

Key Symptoms and Considerations

• Gastrointestinal symptoms: diarrhea, abdominal pain, nausea, vomiting
• Extraintestinal symptoms: fatigue, weight loss, growth failure, irritability, inability to concentrate
• Association with other conditions: type 1 diabetes, autoimmune thyroid disease, Down syndrome
• Importance of screening: especially in high-risk populations, such as those with first-degree relatives with CD or certain health conditions

A gluten-free diet is the primary treatment for celiac disease, and early diagnosis and intervention are crucial to prevent long-term complications and improve quality of life. The diagnosis of CD typically involves serological tests for celiac-specific antibodies, such as IgA tissue transglutaminase (tTG) antibodies, followed by an intestinal biopsy to confirm the condition 1. However, recent guidelines suggest that biopsy-avoidance strategies may be considered in certain cases, particularly in children with high antibody levels and positive human leukocyte antigen (HLA) genetic testing 1.

Diagnostic Approach

• Serological tests: IgA tTG antibodies, IgG deamidated gliadin peptide (DGP) or IgG tTG in IgA deficient patients
• Intestinal biopsy: to confirm the diagnosis, especially in asymptomatic children or those with uncertain serology results
• HLA genetic testing: to assess the risk of CD and guide diagnostic decisions

Regular follow-up appointments are necessary to monitor the growth, nutritional status, and adherence to the gluten-free diet in pediatric patients with CD. Nutritional supplements may be required to address deficiencies, particularly in iron, calcium, vitamin D, zinc, and B vitamins 1. Parents and caregivers should be vigilant about hidden sources of gluten in foods, medications, and non-food items to ensure strict adherence to the gluten-free diet.

From the Research

Clinical Manifestations of Celiac Disease in Pediatric Patients

• Classic symptoms of celiac disease in pediatric patients include diarrhoea, bloating, weight loss, and abdominal pain 2
• Extra-intestinal manifestations of celiac disease in pediatric patients include iron deficiency anaemia, faltering growth, delayed puberty, and mouth ulcers 2
• Some pediatric patients may have an increased risk of developing celiac disease, such as those with a strong family history, certain genetic conditions, or type 1 diabetes 2

Nutritional Deficiencies and Celiac Disease

• Celiac disease can lead to nutritional deficiencies, including reduced levels of iron, folate, vitamin B12, vitamin D, zinc, and magnesium 3
• Iron deficiency anaemia is a common extra-intestinal sign of celiac disease and usually resolves with adherence to a gluten-free diet 3
• Deficiencies of folate and vitamin B12 may persist in some patients on a gluten-free diet, requiring vitamin supplementation to improve subjective health status 3

Gluten-Free Diet and Celiac Disease

• A gluten-free diet is essential for the management of celiac disease, but it may not always prevent nutritional deficiencies 4, 3, 5
• A tailored gluten-free diet that meets nutritional targets is necessary for effective management of celiac disease 5
• Barriers to adherence to a gluten-free diet include family ignorance, language of nutrition labels, and expensive gluten-free products 4

Predictors of Gluten Avoidance

• Predictors of gluten avoidance in children and adolescents without confirmed celiac disease include irritability or poor temper, diarrhea, pervasive developmental disorder, and family history of celiac disease 6
• A physician-recommended or parent-initiated gluten-free diet is associated with predictors such as irritability, diarrhea, pervasive developmental disorder, and positive serology before referral 6