A Rare Association of Celiac Disease and Aplastic Anemia

Area of Science:

• Pediatric Gastroenterology
• Hematology
• Immunology

Background:

• Celiac disease (CD) is an immune-mediated disorder triggered by gluten in genetically susceptible individuals.
• Aplastic anemia (AA) is a rare but serious condition characterized by bone marrow failure.
• The co-occurrence of CD and AA is infrequently reported, particularly in pediatric populations.

Purpose of the Study:

• To report a rare pediatric case of concurrent celiac disease and aplastic anemia.
• To highlight the diagnostic challenges and therapeutic outcomes in such cases.
• To emphasize the importance of considering CD screening in children with unexplained hematological abnormalities.

Main Methods:

• Case report of a 4-year-old boy presenting with symptoms of diarrhea, asthenia, and weight loss.
• Laboratory evaluation revealed bicytopenia, severe anemia, neutropenia, and elevated anti-tissue transglutaminase IgG antibodies (anti-tTG IgG).
• Bone marrow biopsy confirmed aplasia, and upper digestive endoscopy diagnosed CD; treatment involved a gluten-free diet (GFD).

Main Results:

• The patient showed clinical and serological improvement after initiating a GFD, with resolution of bicytopenia and anemia.
• Anti-tTG IgG levels decreased but remained positive, indicating partial adherence to the GFD.
• This represents the eighth reported pediatric case of the CD-AA association.

Conclusions:

• The association between celiac disease and aplastic anemia, though rare, warrants consideration in pediatric hematology.
• Screening for celiac disease should be performed in children presenting with unexplained hematological abnormalities, including aplastic anemia.
• Gluten-free diet intervention can lead to favorable outcomes in pediatric patients with both conditions.