A Rare Association of Celiac Disease and Aplastic Anemia

Celiac disease (CD) is a chronic immune-mediated disorder triggered by the ingestion of gluten in genetically predisposed individuals. Association of CD and aplastic anemia (AA) has been reported in the literature, yet this association remains rare in children. The authors report a case of a previously healthy 4-year-old boy with 1-month history of diarrhea, asthenia, loss of appetite, and weight loss. Laboratory evaluation showed bicytopenia with very severe aregenerative anemia and neutropenia. Bone marrow aspirate and biopsy were performed with findings suggestive of bone marrow aplasia. Further etiological research showed IgA deficiency and increased plasma concentrations of anti-tissue transglutaminase IgG antibodies (anti-tTG IgG 336 U/mL). Patient underwent upper digestive endoscopy confirming diagnosis of CD. The child started a gluten-free diet (GFD) with subsequent clinical and serological improvement. At 12-month post-hospitalization follow-up, the child was asymptomatic, with normal growth rate, resolution of bicytopenia, and anti-tTG IgG lower but still positive (151 U/ml) due to partial adhesion to GFD. To the best of author's knowledge, this is the eighth published pediatric case describing the association of CD with AA. The pathogenesis of this association is not yet fully understood. The authors suggest that CD screening should be considered in patients with unexplained hematological abnormalities.