Diagnostic and Management of Severe Hemophilia a in an Infant Complicated with Compartment Syndrome: A Case Report

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Introduction: Acquired Hemophilia A (AHA) is a rare coagulopathy characterized by the development of autoantibodies that inhibit factor VIII activity. Diagnosis is often delayed due to the absence of personal or familial bleeding history, increasing the risk of life-threatening complications, as demonstrated in this clinical case. Case Report: We present the case of a 7-month-old male infant with no relevant personal or family medical history, who was admitted for spontaneous ecchymosis in the right upper limb and signs of pain upon movement. Laboratory findings revealed severe microcytic hypochromic anemia (Hb 3.1 g/dL), prolonged activated partial thromboplastin time (aPTT, 67.9 s), and factor VIII activity <1%. An urgent fasciotomy was performed due to compartment syndrome, revealing pale muscle tissue and intramuscular coagulated blood. Management included red blood cell transfusions, fresh frozen plasma, cryoprecipitate, and replacement therapy with factor VIII. The patient showed favorable clinical evolution, achieving 90% factor activity without new bleeding episodes. Discussion: Hemophilia A is an X-linked recessive bleeding disorder that predominantly affects males. Clinical severity correlates directly with residual factor VIII activity (1). The severe form may manifest within the first months of life with spontaneous muscular or joint hemorrhages (11). Diagnosis relies on clinical history, coagulation studies, and specific factor assays (14). Early detection and comprehensive, multidisciplinary management are essential to prevent disabling complications and long-term sequelae. Conclusion: This case underscores the importance of early recognition and prompt therapeutic intervention in severe Hemophilia A. The combination of emicizumab and immunosuppressive therapy proved to be a safe and effective strategy, enabling functional recovery without recurrence of bleeding episodes.

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