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Hamostaseologie 2025; 45(05): 378-389
DOI: 10.1055/a-2681-4611
Review Article

Overview on Rare Congenital Bleeding Disorders and Epidemiological Data from the German Haemophilia Registry (DHR) and a Survey in Germany, Austria, and Switzerland

Authors

  • Katharina Holstein

    1   University Medical Center Schleswig-Holstein, Institute for Clinical Chemistry, Coagulation Centre, Kiel, Germany

  • Kai Gutensohn

    2   Werlhof-Institut MVZ, Hannover, Germany

  • Rosa Sonja Alesci

    3   MVZ IMD GmbH, IMD Blood Coagulation Center Hochtaunus, Bad Homburg, Germany

  • Manuela Krause

    4   DKD Helios Klinik Wiesbaden, Center for Internal Medicine, Haemostaseology, Germany

  • Ute Scholz

    5   MVZ Labor Dr. Reising-Ackermann und Kollegen, Leipzig, Germany

  • Cornelia Wermes

    6   HämoZentrum Dr. Wermes, Hildesheim, Germany

  • Susan Halimeh

    7   University Hospital Essen, Pediatric Haematology Oncology, Essen, Germany
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Abstract

Introduction

Rare bleeding disorders (RBDs), defined as hereditary coagulation factor deficits other than haemophilia, are characterized by a heterogenous clinical phenotype ranging from life-threatening bleeding to thrombosis. There are uncertainties concerning treatment intensity and levels needed to achieve haemostasis, and epidemiological data from Germany, Austria, and Switzerland (GTH region) are scarce.

Methods

We performed a narrative literature review, focusing on bleeding phenotype and thrombotic risk. Epidemiologic data, including adults and children, and general treatment approaches have been collected via an online survey among GTH haemophilia centres (all categories) and the general information service of the German national registry (Deutsches Hämophilieregister, DHR).

Results

We provided an overview on RBDs, revealing that especially in FV, FVII, and FXI deficiencies, the correlation between factor levels and bleeding phenotype is poor. A thrombotic risk needs to be considered in FVII deficiency and afibrinogenaemia or dysfibrinogenaemia. The survey was completed by 34 centres from Germany, Austria, and Switzerland, and compared with 137 centres reporting data to the DHR. FVII deficiency was confirmed to be the most frequent, and FII deficiency was the rarest RBD in this region. For treatment, single factor concentrates were preferred over multifactor concentrates or plasma, and tranexamic acid was often part of the treatment. Approximately 30, 40, and <10% of patients with severe FV, FVII, and FXI deficiency (defined as factor level <10%), respectively, were receiving prophylactic treatment, suggesting an overall milder bleeding phenotype.

Conclusion

More detailed registry data could give insights into the treatment landscape of RBDs, considering the challenge of clinical trials in rare diseases.

Keywords

rare bleeding disorders - bleeding phenotype - thrombosis - treatment

Authors' Contribution

All authors contributed to designing the survey. K.H. extracted and analyzed data and wrote the first draft of the manuscript. All authors contributed to manuscript writing and approved the final version.




Publication History

Received: 17 February 2025

Accepted: 11 August 2025

Article published online:
15 October 2025

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