Abstract
The current standard of care treatment for severe hemophilia A and B (SHA and SHB) is the prophylactic intravenous replacement of coagulation factor VIII or IX (FVIII/FIX) to prevent spontaneous bleeding. Persons with hemophilia without prophylactic treatment receive therapy in case of bleeding, i.e., on demand. To assess treatment patterns, utilization of products, and bleeding outcomes in a real-world cohort of persons with SHA and SHB, defined as FVIII or FIX activity < 1%, data was retrospectively collected from hemophilia-specific patient diaries used for home treatment, medical records, and entries into the Austrian Hemophilia Registry from the year 2012 to 2017. Fifty-three male persons with SHA (n = 47) and SHB (n = 6) were included; 26 with SHA and 5 with SHB were on prophylaxis, 8 and 1 switched therapy regimen, and 13 and 0 received on-demand therapy. Persons on prophylaxis used a mean factor FVIII or FIX dose of 71.7 and 40.1 IU/kg/week. Median (IQR) annualized bleeding rates (ABR) in SHA were 28.0 (23.4–31.3) in the on-demand, 4.9 (1.6–13.5) in the prophylaxis group, and 3.0 (2.0–6.8) in the prophylactic group of SHB. Three persons with SHA had zero bleeds during the observation period. On-demand therapy and hepatitis B and C were associated with higher ABR but not age, weight, and HIV positivity. Bleeding rates and the proportion of on-demand therapy in persons with hemophilia were high in our real-world cohort. Further improvement is needed, which might be facilitated with the advent of factor products with extended half-life or non-factor therapies.
Highlights
Hemophilia, a rare bleeding disorder with X-chromosomal recessive inheritance pattern, is characterized by the deficiency of coagulation factor VIII (FVIII) in the case of hemophilia A or IX (FIX) in the case of hemophilia B
Ninety-four adult persons with SHA and 10 with SHB were treated at the Hemophilia Center Vienna during the observation period (01 January 2012 and 31 December 2017) (Fig. 1)
According to the latest update of the Austrian Hemophilia Registry, which covers more than 85% of the assumed persons with hemophilia in Austria, there are 294 persons with SHA or SHB in Austria
Summary
Hemophilia, a rare bleeding disorder with X-chromosomal recessive inheritance pattern, is characterized by the deficiency of coagulation factor VIII (FVIII) in the case of hemophilia A or IX (FIX) in the case of hemophilia B. Severe hemophilia (defined as factor activity < 1%) is associated with a high risk of spontaneous bleeding, mostly affecting joints. To prevent bleeding in severe hemophilia A and B (SHA and SHB), treatment with regular factor concentrate infusions is required [1,2,3]. Prophylaxis is frequently individualized based on bleeding phenotype, lifestyle and level of activity, pharmacokinetic profile, patient preference, and other factors [4]. Persons with severe hemophilia, who do not receive prophylactic factor replacement, are treated on demand, i.e., when bleeding occurs [2]. In high-income countries, an essential aspect of hemophilia management is home treatment [3]
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