Total knee arthroplasty in a female with a severe form of hemophilia A

Abstract

   Introduction. Hemophilia is an X-linked hereditary blood clotting disorder caused by insufficiency of blood clotting factor VIII or IX that affects mainly men. In extremely rare cases, the disease can be observed in women, which is most often associated with asymmetric inactivation of the X chromosome. The severity of hemophilia in women does not differ from that in men.
   Aim – to present a clinical observation of surgical treatment of stage 4 hemophilic arthropathy in a woman with severe hemophilia A.
   Main findings. Female patient T., 39 years old, was admitted to the National Medical Research Center for Hematology with a preliminary diagnosis: hereditary deficiency of factor VIII. She had an extension of the APTT to 68.8 sec, a high level of Willebrand factor activity — 222 %, and the concentration of Willebrand factor antigen of 178.1 mg/l, and a decrease in the level of factor VIII to 1.6 %. According to molecular genetic analysis, intron 22 inversion associated with severe hemophilia A was detected in the F8 gene. Throughout the patient’s life, hemarthrosis of the knee, ankle and elbow joints were observed, which led to the development of severe arthropathy of varying severity. The woman underwent total knee arthroplasty and arthrolysis of the left ankle joint. The postoperative period proceeded without complications. Hemostatic replacement therapy was performed with a recombinant factor VIII.