Dolan Gerard, Fijnvandraat Karin, Lenting Peter J, Catarino Cristina, Lavin Michelle
Centre for Haemostasis and Thrombosis, St Thomas' Comprehensive Care Centre, London, United Kingdom.
Paediatric Haematology, Emma Children's Hospital, and UMC, University of Amsterdam, Amsterdam, The Netherlands.
Semin Thromb Hemost. 2025 Feb;51(1):58-67. doi: 10.1055/s-0044-1786358. Epub 2024 May 11.
People with nonsevere hemophilia (PWNSH) are phenotypically more diverse than those with severe hemophilia. Perceptions relating to a "nonsevere" phenotype have contributed to fewer research initiatives, fewer guidelines on optimal management, and a lack of standards for surveillance and clinical assessment for affected individuals. In many cases, episodes of abnormal bleeding could, if investigated, have led to earlier diagnosis. Furthermore, the major recent developments in therapy for hemophilia have largely focused on severe disease and, as a group, PWNSH have not been included in many key clinical trials. Benefiting people with severe disease, innovative replacement therapies have generally targeted factor levels that are above those present in a large proportion of PWNSH. Therapeutic advances can lead to improvement in phenotype for people with severe hemophilia over that currently experienced by many PWNSH. As a result, we are approaching a point where PWNSH may, in many countries, have a higher risk of bleeding and restriction in lifestyle than those with severe disease but with more limited therapeutic options. Given the multiple major advances in treatment for people with hemophilia, it is timely to review the aspects of nonsevere disease, to ensure equity in care and management for all individuals with this condition.
非重度血友病患者（PWNSH）在表型上比重度血友病患者更为多样。对“非重度”表型的认知导致了相关研究项目较少、最佳管理指南较少，以及缺乏针对患者的监测和临床评估标准。在许多情况下，如果对异常出血事件进行调查，本可实现更早诊断。此外，血友病治疗领域近期的主要进展大多集中在重度疾病上，总体而言，PWNSH未被纳入许多关键临床试验。创新的替代疗法通常以高于许多PWNSH患者体内因子水平为目标，这使重度疾病患者受益。治疗进展可使重度血友病患者的表型比许多PWNSH患者目前的状况有所改善。因此，在许多国家，我们正面临这样一种情况：PWNSH可能比重度疾病患者有更高的出血风险和生活方式受限风险，但治疗选择却更为有限。鉴于血友病治疗取得了多项重大进展，及时审视非重度疾病的各个方面，以确保对所有患此病的个体在护理和管理上的公平性，是很有必要的。
