ABSTRACT
Introduction: Hemophilia A is an X-linked bleeding disease caused by coagulation factor VIII (FVIII) deficiency. Clinical presentation include bleeding and their sequalae. Hemarthrosis are the most frequent bleeding manifestation and can lead to disabling hemophilic arthropathy. However, bleeding diathesis could also be unrelated to FVIII deficiency and other causes must be taken into consideration. Methods: Case presentation: A 54-year-old man affected by severe hemophilia A, with previous inhibitors eradicated with immune tolerance induction (ITI) and suffering from a disabling hemophilic arthropathy has been followed at our center since March 1988. After on demand treatment, he started regular prophylaxis in 2003. At 25 and 27 years-old he suffered pathological fractures to both femurs, presenting with pain and functional limitation in both cases. While the first fracture was caused by osteoporosis in abuse of steroids, the second one was related to bone localization of non-Hodgkin large cell malignant lymphoma, treated with chemo and radiotherapy plus autologous stem cells transplantation and currently in clinical remission. In April 2021, 20 days after second inoculation of COVID-19 vaccination (Pfizer®), the patient developed important mucosal and cutaneous bleeding, lasting more than a week despite recombinant FVIII infusion and for which he sought medical consult. Results: Blood count analyses revealed severe immune thrombocytopenia (Platelets 3000/mmc), requiring two lines of therapy (steroid plus intravenous immunoglobulin, followed by Rituximab), always under active FVIII prophylaxis. Further investigation for thrombocytopenia revealed that the cause is a chronic lymphatic leukemia clone in the bone marrow, currently not requiring active treatment. Discussion/Conclusion: The previous case highlights how alternative bleeding cause should be considered also in hemophilia patients and how crucial is physical examination: articular or bone pain can be related to typical hemarthrosis but also to bone damage of different nature. When a bleeding episode is refractory to usual therapy, particularly in patients with severe hemophilia and a previous history, inhibitors should always be suspected. However, especially if clinical presentation is unusual (as mucosal and cutaneous diathesis) a different source should be promptly investigated for lifesaving care.