Severe Immune Thrombocytopenic Purpura in a Pediatric Patient With Fanconi Anemia: A Case Report

Fanconi anemia (FA) is a rare inherited disorder characterized by progressive bone marrow failure, chromosomal instability, and an increased predisposition to malignancies. Autoimmune manifestations are uncommon in FA, with immune thrombocytopenic purpura (ITP) being a particularly rare presentation. ITP is an autoimmune disorder marked by immune-mediated platelet destruction, leading to severe thrombocytopenia and an increased risk of bleeding. This case report presents a pediatric patient with FA and severe ITP, illustrating the clinical challenges of managing autoimmune complications in the context of FA. This case report describes the case of a six-year-old boy with known FA who presented with a three-day history of spontaneous bruising, petechiae, and epistaxis. He had severe thrombocytopenia (platelet count: 8,000/µL) without other significant cytopenias. The initial workup excluded viral infections and other secondary causes, leading to the diagnosis of ITP. The patient was treated with intravenous immunoglobulin (IVIG) and corticosteroids, resulting in a transient improvement. However, his platelet counts declined, prompting treatment with rituximab, which achieved a sustained response. He was discharged after four weeks of rituximab therapy and remained stable at follow-up with a platelet count of 100,000/µL. This case highlights the rare occurrence of ITP in FA and the successful use of rituximab for refractory thrombocytopenia. The findings suggest a need for ongoing research into the mechanisms of immune dysregulation in FA and the development of optimized therapeutic strategies for managing autoimmune manifestations in this complex patient population.