An Unusual Presentation of Hemophilia A: Pseudotumor of Distal End Radius—Masquerading as Giant Cell Tumor

Abstract

AbstractHemophilia is a coagulation defect caused by a functional or absolute deficiency of coagulation factors. Deficiency of factor VIII leads to hemophilia A; deficiency of factor IX causes hemophilia B. Pseudotumor may arise from hemorrhage into the muscle and within the subperiosteal space and can lead to destruction of the adjacent muscle, bone, nerves, and vessels. A 60-year-old man presented with the complaint of pain and swelling in right wrist. The patient consulted the general practitioner who misdiagnosed it as a case of giant cell tumor due to typical X-ray changes. Biopsy was done following which there was prolonged bleeding leading to worsening of clinical condition and the patient presented in our hospital with ulcerated swelling. Routine blood investigations were within normal limit. Prothrombin time was 12.1 seconds and activated partial thromboplastin time (aPTT) was 54.3 seconds. Raised aPTT led to suspicion of hemophilia, and factor VIII and IX levels were investigated. Factor IX level was within normal limit. Factor VIII level was 6.3%. The patient was managed conservatively. Factor VIII level was replaced according to standard protocol (40 IU/kg per dose thrice a week for 10 days). Daily dressing was done using tranexamic acid locally. Lesion healed completely in 6 months.