Hamostaseologie 2025; 45(S 01): S59-S61
DOI: 10.1055/s-0044-1801633
Abstracts
Topics
T-07 Hereditary bleeding disorders

The Great Return: Rebuilding and Advancing the Swiss Haemophilia Registry

Authors

  • A Bosch

    1   University Children's Hospital Zurich, Haematology, Zurich, Switzerland

  • L Alberio

    2   Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Service and Central Laboratory of Haematology, Lausanne, Switzerland

  • P Fontana

    3   University Hospitals of Geneva and Geneva Platelet Group, Faculty of Medicine, Division of Angiology and Haemostasis, Geneva, Switzerland

  • L Graf

    4   Centre for Laboratory Medicine, Haemostasis and Haemophilia Centre, St. Gallen, Switzerland

  • J A Kremer Hovinga

    5   Inselspital, Bern University Hospital, University of Bern, Department of Hematology and Central Hematological Laboratory, Bern, Switzerland

  • N von der Weid

    6   University Children’s Hospital Basel (UKBB), Department of Pediatric Hematology-Oncology, Basel, Switzerland

  • M Rizzi

    7   Lausanne University Hospital (CHUV), University of Lausanne (UNIL), Pediatric Hematology-Oncology Unit, Lausanne, Switzerland

  • M Albisetti

    1   University Children's Hospital Zurich, Haematology, Zurich, Switzerland
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Introduction: Bleeding disorders are rare diseases including haemophilia A (HA) and B (HB), von Willebrand disease (VWD), other rare clotting factor deficiencies and platelet function disorders. Bleeding in different severities is typical and treatment depends on the specific type of bleeding disorder and individual clinical manifestations. Patient registries capture disease related information and provide a valuable source for real-world data on rare diseases and their management. The Swiss Hemophilia Registry (SHR) was reestablished in 2014 on the basis of a new Swiss federal human research act.

Method: The SHR is an observational, prospective, longitudinal, multi-centre national registry of patients with inherited bleeding disorders and was approved by all participating Swiss regional ethics committees. All haemophilia treatment centres in Switzerland recruit and include patients with bleeding disorders into the SHR after informed consent is obtained. Participation is voluntary. Data is collected annually via a web-based portal and includes patient demographics, comorbidities, bleeding events, and treatment. For the present analysis, data was collected from 2015-2022, and described using percentages, ratios, measures of central tendency and dispersion.

Results: Eleven centres including both adult and pediatric treaters recruited patients into the registry. The number of enrolled patients increased annually. At the end of 2022, 851 patients with inherited bleeding disorders were included in the SHR of which 61% had HA and 17% had HB. This represents more than 80% of the expected hemophilia population in Switzerland. In the SHR cohort 88% were male and 75% were older than 18 years. Among females VWD was the most frequent diagnosis (58%). [Fig. 1] summarizes the types of bleeding disorders by sex and by age. Overall, 27% of patients received factor products for bleeds, and 14% of patients required factor products for surgeries. The proportion of HA and HB patients receiving prophylaxis treatment is shown for mild, moderate and severe disease respectively ([Fig. 2]). The trend of type of products used from 2015-2022 is shown in [Fig. 2]. Of patients with HA or HB, 3% had at least one target joint. The prevalence of inhibitors in 2022 for HA was 1.1% and 0% for HB [1] [2] [3] [4] [5] [6].

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Fig. 1  Types of bleeding disorders in the Swiss Haemophilia Registry by age and by sex
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Fig. 2  Product use for Prophylaxis in patients with haemophilia A (HA) and B (HB) within the Swiss Haemophilia Registry. aFVII=activeated factor VII; SHL=standard half-life; EHL=extended half-life

Conclusion: The real-world data from the SHR show the bleeding disorder landscape of haemophilia treatment centres in Switzerland. Patients with HA and HB are strongly represented, and the treatment evolution over the last decade is shown, especially the increasing use of extended half-life and of non-factor products. It is evident, that only few women are included, and that VWD and the other rare bleeding disorders are not as strongly represented, due to the current inclusion criteria of the registry. These points, as well as the more detailed inclusion of other comorbidities (e.g. cardiovascular disease, neoplasms) need to be addressed in the advancement of the SHN-Registry.

Acknowledgements: We thank all patients who agreed to enroll in the SHR. We thank all Haemophilia Treatment Centres in Switzerland and their personnel for recruiting and contributing to the registry, especially the local investigators Marc Heizmann (Aarau), Indra Janz (Aarau), Dimitrios Tsakiris (Basel), Bernhard Gerber (Bellinzona), Pierluigi Brazzola (Bellinzona), Giuseppe Colucci (Bellinzona), Jochen Karl Rössler (Bern), Reta Malär (Chur), Veneranda Mattiello (Geneva), Rita Turello (Lausanne), Pascale Raddatz Müller (Lucerne), Freimut Schilling (Lucerne), Pierre-Yves Lovey (Sion), Heinz Hengartner (St. Gallen), Alice Trinchero (Zurich). We particularly thank the haemophilia nurses at all centers for their invaluable work in caring for patients with bleeding disorders and for their help in collecting data for this registry. We thank the industry for financially supporting the registry (see COI). AB is supported by research grants from the “Claus Cramer Foundation”, “Filling the gap program” and “Walter and Gertraud Siegenthaler Foundation” from the University of Zurich, Switzerland.



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Artikel online veröffentlicht:
13. Februar 2025

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