What are the clinical presentations of celiac disease in pediatric patients?

Clinical Presentation of Celiac Disease in Children

Celiac disease in children presents with a broad clinical spectrum ranging from classic malabsorption symptoms (diarrhea, failure to thrive, abdominal distension) in younger children to predominantly atypical or extraintestinal manifestations in school-age children, with many cases being entirely asymptomatic and detected only through screening of high-risk groups.

Classic Gastrointestinal Presentations

The traditional presentation of celiac disease includes:

• Chronic diarrhea is one of the most common classic symptoms, frequently accompanied by abdominal pain 1, 2
• Failure to thrive, poor weight gain, or weight loss are particularly important indicators in pediatric patients 1, 2
• Abdominal distension occurs in 75% of children with celiac disease and is highly significant (p=0.041) 3
• Bloating and flatulence are common gastrointestinal complaints 1, 2
• Malabsorption leading to nutritional deficiencies is a hallmark feature 1, 2

However, classic symptoms now occur in a minority of celiac patients, with only 62.5% of children presenting with typical symptoms compared to older presentations 4. Research shows that typical malabsorption symptoms (including failure-to-thrive) increase diagnostic accuracy from 98-100% 1.

Atypical and Extraintestinal Manifestations

The presentation of celiac disease has significantly changed over the last few decades, with older children having either minimal or atypical symptoms 5:

Hematological Manifestations

• Iron deficiency anemia is present in 61% of children with celiac disease versus 33% without (p=0.0001) 6
• Anemia may be resistant to oral iron supplementation and can occur even without gastrointestinal symptoms 7, 2
• All children with biopsy-proven celiac disease in one study had anemia (Hb <12 gm/dl) 3

Growth and Development

• Short stature is the most common extraintestinal manifestation in children (33%) 7
• Growth failure is a significant concern, though less common than previously thought (35% vs. 53% in non-celiac children, p=0.02) 6, 5
• Delayed puberty and amenorrhea may occur in adolescents 5

Neuropsychiatric Symptoms

• Chronic fatigue is a common complaint related to anemia or general malnutrition 1, 2
• Irritability and inability to concentrate are particularly noted in children 1, 2

Musculoskeletal Manifestations

• Osteopenia and osteoporosis occur frequently in untreated celiac disease, with prevalence ranging from 1.7% to 42% depending on age and clinical phenotype 7
• Rickets may be an atypical presentation 3

Dermatological Manifestations

• Dermatitis herpetiformis is an occasional skin manifestation 1

Other Atypical Presentations

• Chronic abdominal pain without diarrhea 5
• Chronic constipation rather than diarrhea 5
• Recurrent aphthous stomatitis (mouth ulcers) 5
• Unexplained elevation of liver enzymes 5
• Nausea and vomiting may occur in some patients 2

Age-Related Differences in Presentation

Celiac disease shows significant age-related differences at diagnosis 4:

• Younger children (<2 years) represent 15% of diagnoses and more commonly present with classic malabsorption symptoms 6, 4
• School-age children (median age 6.8 years) are frequently diagnosed with relatively mild symptoms 6
• Classic symptoms are present in 62.5% of children versus only 31% of adults (p=0.01), indicating more evident clinical features in younger patients 4
• The average time to diagnosis is significantly shorter in children (7.6 months) compared to adults (90 months, p<0.001) 4

Silent and Asymptomatic Celiac Disease

A critical pitfall is that many children have silent or asymptomatic celiac disease 2, 8:

• The absence of intestinal symptoms does not preclude the diagnosis of celiac disease; many children with confirmed disease do not report intestinal symptoms 6
• Only approximately 24% of those with celiac disease are diagnosed, creating a "celiac iceberg" of undiagnosed cases 7, 2
• Silent cases are occasionally discovered through serological screening of high-risk groups 8

Special Presentation in Children with Type 1 Diabetes

Celiac disease occurs in 5-10% of children with type 1 diabetes 1, 7, and may present with:

• Unpredictable blood glucose levels despite adherence to insulin regimen 1, 2
• Unexplained hypoglycemia episodes 1, 2
• Glycemic deterioration without obvious cause 1, 2
• Excessive weight gain in older female teens and young adults, associated with gastrointestinal distress leading to overeating 1

High-Risk Groups Requiring Screening

Serologic testing should be performed in children with 1, 5:

• First-degree relatives of celiac patients (7.5% risk) 1, 7, 2
• Type 1 diabetes mellitus (5-10% prevalence) 1, 7, 2
• Autoimmune thyroid disease (3% prevalence of celiac disease) 7, 2
• Down syndrome (5.5% confirmed celiac prevalence) 1, 7, 2
• Turner syndrome (6.3% celiac prevalence) 7, 2

Clinical Spectrum Categories

The clinical spectrum in children includes 8:

1. Typical cases presenting early in life with signs of intestinal malabsorption (chronic diarrhea, weight loss, abdominal distention) 2, 8
2. Atypical cases showing milder, often extraintestinal symptoms 8
3. Silent cases discovered through serological screening 2, 8
4. Potential/latent cases showing isolated positivity of celiac serology at first testing and eventually developing typical intestinal damage later in life 8

Gender Distribution

There is a higher incidence of celiac disease in girls (p=0.003), with an overall female/male ratio of 2.6:1 in children (1.6:1), which increases significantly in adults (5.7:1, p=0.009) 6, 4.

Critical Clinical Pitfalls to Avoid

• Many patients present exclusively with extraintestinal symptoms without gastrointestinal complaints, leading to significant diagnostic delay 7, 2
• Up to 95% of celiac patients remain undiagnosed despite increased awareness 5
• Symptoms may overlap with other gastrointestinal disorders such as irritable bowel syndrome, lactose intolerance, or microscopic colitis 2
• Height and weight are not reliable predictors of celiac disease 9
• Left undiagnosed and untreated, even asymptomatic celiac disease leads to higher risk of complications including osteoporosis, infertility, and small bowel lymphoma 7

Practical Approach to Recognition

Primary pediatricians and pediatric subspecialists should maintain a high degree of awareness and embrace liberal use of serological testing in children with 8, 5:

• Unexplained chronic or intermittent diarrhea
• Any growth concerns (failure to thrive, short stature, weight loss)
• Unexplained iron deficiency anemia
• Chronic abdominal pain or distension
• Chronic constipation
• Recurrent aphthous stomatitis
• Abnormal liver enzyme elevation
• Membership in any high-risk group

The goal is to identify cases in a timely fashion to prevent serious complications secondary to untreated celiac disease 8.