Haemophilia is an X-linked congenital bleeding disorder caused by a deficiency of factor VIII/IX. Patients with haemophilia (PWH) experience spontaneous bleeding into joints and muscles. Recurrent joint bleeds result in painful and disabling haemophilic multi-arthropathy characteristic of elbows, knees and ankles. The standard of care for PWH is replacement of factor concentrate. Haemophilic pseudotumor (HPT) is one of the complications which can occur in PWH due to repeated bleeding. The occurrence of HPT is not uniform, so treatment needs to be tailored to the individual. We report the case of right distal femur HPT with multi haemophilic end-staged arthropathies (bilateral elbows, knees and ankles). He suffered from walking disability and right thigh pain. He showed functional limitations in those arthropathies, so he could not use crutches. To reduce excess loads on affected joints, we performed left total knee arthroplasty before excision of HPT of the right femur. This is the first case report of a 37-year-old man with haemophilia whose treatment combined en bloc excision of the HPT and reconstruction of distal femur using a tumour prosthesis with severe bone destruction after excision of HPT. At the 24-month postoperative follow-up, the patient was able to walk without any support. When the patients suffer from multi-joint haemophilic arthropathy and HPT, comprehensive and well-planned surgical treatment strategy under adequate factor VIII replacement therapy is necessary.
Keywords: Haemophilia; arthropathy; bone destruction; pseudotumor; surgery; tumour prosthesis.