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. 2024 Jan;22(1):152-162.
doi: 10.1016/j.jtha.2023.09.029. Epub 2023 Oct 7.

Patients with moderate hemophilia A and B with a severe bleeding phenotype have an increased burden of disease

Marieke J A Verhagen  1 , Erna C van Balen  2 , Nicole M A Blijlevens  3 , Michiel Coppens  4 , Waander L van Heerde  5 , Frank W G Leebeek  6 , Sanna R Rijpma  7 , Lize F D van Vulpen  8 , Samantha C Gouw  9 , Saskia E M Schols  10
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Free article

Patients with moderate hemophilia A and B with a severe bleeding phenotype have an increased burden of disease

Marieke J A Verhagen et al. J Thromb Haemost. 2024 Jan.
Free article

Abstract

Background: Patients with moderate hemophilia express varying bleeding phenotypes.

Objectives: To assess the burden of disease in patients with moderate hemophilia and a mild or severe phenotype incorporating the thrombin generation profile.

Methods: This sub-study of the 6th Hemophilia in the Netherlands study, analyzed data of adults with moderate hemophilia A or B. Patient characteristics and information on bleeding tendency, joint status, and quality of life were obtained from electronic patient files and self-reported questionnaires. A severe bleeding phenotype was defined as an annual bleeding rate ≥5, an annual joint bleeding rate ≥3, and/or the use of secondary/tertiary prophylaxis, and a mild phenotype vice versa. TG was measured with the Nijmegen Hemostasis Assay.

Results: This study included 116 patients: 21% had a severe phenotype of whom 46% used prophylaxis. Patients with a severe phenotype treated on demand reported a higher median annual bleeding rate (7), annual joint bleeding rate (3), and more frequently an impaired joint (77%) than patients with a severe phenotype on prophylaxis (2; 0; 70%) or patients with a mild phenotype (0; 0; 47%). Furthermore, patients with a severe phenotype treated on demand experienced a more decreased quality of life. Despite similar factor activity levels, patients with a severe phenotype had a lower thrombin peak height and thrombin potential (0.7%; 0.06%) than patients with a mild phenotype (21.3%; 46.8%).

Conclusion: Patients with moderate hemophilia and a severe phenotype treated on demand displayed a high burden of disease as well as a low thrombin generation profile advocating them toward more intensive prophylactic treatment.

Keywords: hemophilia A; hemophilia B; phenotype; quality of life; thrombin.

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Conflict of interest statement

Declaration of competing interests N.M.A.B, S.R.R, E.C.v.B., and M.J.A.V. have no conflicts of interest to declare. M.C. has received financial support for research from Bayer, CSL Behring, Daiichi Sankyo, Portola/Alexion, Roche, Sanquin Blood Supply, and UniQure; and consultancy or lecturing fees from Bayer, CSL Behring, Medcon International, Medtalks, Novo Nordisk, Pfizer, and Sobi. W.L.v.H. has received unrestricted grants from Bayer, Shire, Novo Nordisk, and CSL Behring; and is the founder and CSO of Enzyre BV, a Radboudumc spinoff company. F.W.G.L. has received unrestricted grants or research funding from CLS Behring, Sobi, Takeda, and Uniqure; consultancy fees from BioMarin, CLS Behring, Takeda, and Uniqure (of which all fees go to the University); and was a Data Safety Monitoring Board Member for Roche. L.F.D.v.V. has received a research grant from Griffols (fee paid to the institution). S.C.G. has received an unrestricted research grant from SOBI. S.E.M.S. has received an unrestricted research grant from Bayer.

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