Giardiasis mimicking celiac disease in a patient of common variable immunodeficiency

Area of Science:

• Pediatric Gastroenterology
• Immunology
• Infectious Diseases

Background:

• Common Variable Immunodeficiency (CVID) is a primary immunodeficiency characterized by low immunoglobulin levels and impaired B-cell differentiation.
• Celiac Disease (CD) is an autoimmune disorder triggered by gluten ingestion, often presenting with malabsorption symptoms.
• Gastrointestinal symptoms like diarrhea, nausea, and vomiting are common in both CVID and CD, leading to diagnostic challenges.

Observation:

• An adolescent presented with persistent gastrointestinal symptoms and pedal edema, showing hypoproteinemia and low immunoglobulin levels (IgA, IgG, IgM).
• Duodenal biopsy suggested Celiac Disease (CD), but serological tests for CD were negative.
• Stool examination revealed coinfection with Giardia lamblia and Hymenolepis nana.

Findings:

• The patient showed initial improvement with antiparasitic and supportive treatment, but symptoms recurred, leading to a fatal outcome.
• This case highlights the importance of considering parasitic coinfections in CVID patients presenting with Celiac Disease-like symptoms.
• Tissue transglutaminase IgA negativity despite duodenal biopsy findings suggestive of CD underscores the complexity of diagnosis.

Implications:

• Early and thorough parasitic screening is essential for pediatric patients with suspected Celiac Disease and hypogammaglobulinemia.
• Misdiagnosis or delayed diagnosis of coinfections in CVID can lead to severe complications and poor prognosis.
• This case emphasizes the need for a comprehensive diagnostic approach in immunocompromised children with unexplained gastrointestinal disorders.