Bleeding phenotype in nonsevere hemophilia by International Society on Thrombosis and Haemostasis bleeding assessment tool, bleeding frequency, and the joint status

Judit Rejtő; Daniel Kraemmer; Ella Grilz; Oliver Königsbrügge; Cornelia Gabler; Gerhard Schuster; Clemens Feistritzer; Raute Sunder-Plaßmann; Peter Quehenberger; Cihan Ay; Ingrid Pabinger; Johanna Gebhart

doi:10.1016/j.rpth.2023.100047

Bleeding phenotype in nonsevere hemophilia by International Society on Thrombosis and Haemostasis bleeding assessment tool, bleeding frequency, and the joint status

Res Pract Thromb Haemost. 2023 Jan 13;7(2):100047. doi: 10.1016/j.rpth.2023.100047. eCollection 2023 Feb.

Affiliations

¹ Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
² IT Systems and Communications, Medical University of Vienna, Vienna, Austria.
³ Red Cross Blood Service Linz, Linz, Austria.
⁴ Department of Internal Medicine V - Haematology and Oncology, Medical University Innsbruck, Innsbruck, Austria.
⁵ Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.

Abstract

Background: Although the phenotype of severe hemophilia has been well studied, there are still knowledge gaps in nonsevere hemophilia.

Objectives: The objective of this study was to characterize the clinical bleeding phenotype in nonsevere hemophilia and its association with different factor VIII/IX assessments.

Methods: This was a cross-sectional, multicenter study to investigate the bleeding phenotype in adults with nonsevere hemophilia by the number of bleeding and joint bleeding in the past 5 years, a joint score, and the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT). Factor levels were analyzed by 1-stage (lowest in history and at study inclusion) and chromogenic assay (at study inclusion). Patients were enrolled between March 2015 and May 2019.

Results: Of the 111 patients (86 with mild and 25 with moderate hemophilia), 57 patients (54.8%) reported any bleeding and 24 (23.1%) any joint bleeding in the past 5 years. A joint score ≥1 was found in 44 patients (41.9%), an ISTH-BAT ≥4 in 100 patients (90.1%), and an ISTH-BAT joint item ≥1 in 50 patients (45.0%). Within the ISTH-BAT, muscle and joint bleeds showed the largest difference between mild and moderate hemophilia. The lowest factor VIII/IX level in patients' history was best associated with bleeding outcomes. Factor was inversely associated with joint bleeds (incidence rate ratio 0.88; 95% CI, 0.79-0.98), joint score, and ISTH-BAT (odds ratios from proportional odds ordinal logistic regression 0.92; 95% CI, 0.87-0.97; and 0.89; 95% CI, 0.86-0.93, respectively).

Conclusion: The occurrence of joint bleeding differentiated persons with mild and moderate hemophilia. The ISTH-BAT and lowest factor in patients' history provided valuable information of the bleeding phenotype in nonsevere hemophilia.

Keywords: bleeding; factor IX; factor VIII; hemophilia; phenotype.