Núñez Ramiro, Álvarez-Román María Teresa, Bonanad Santiago, González-Porras José Ramón, De La Corte-Rodriguez Hortensia, Berrueco Rubén, Jiménez-Yuste Víctor
Hemophilia Unit, Hospital Universitario Virgen del Rocío, Sevilla, Andalucía, Spain.
Department of Hematology and Hemotherapy, La Paz University Hospital-IdiPaz, Madrid, Spain.
TH Open. 2022 Nov 11;6(4):e365-e377. doi: 10.1055/s-0042-1757745. eCollection 2022 Oct.
Prophylaxis to prevent bleeding is highly recommended for hemophilia patients. The development of new drugs and tools for modeling personalized prophylaxis provides the means for people with hemophilia to lead active lives with a quality of life comparable to that of nonhemophilic individuals. The choice of regimens must be made on a highly individual basis. Unfortunately, reference guides neither always concur in their recommendations nor provide directions to cover all possible scenarios. In this review, a group of experts identify the significant limitations and unmet needs of prophylaxis, taking advantage of their clinical experience in the disease, and supported by a rigorous literature update. To perform a more systematic and comprehensive search for gaps, the main cornerstones that influence decisions regarding prophylactic patterns were first identified. Bleeding phenotype, joint status, physical activity, pharmacokinetics/medication properties, and adherence to treatment were considered as the primary mainstays that should allow physicians guiding prophylaxis to secure the best outcomes. Several challenges identified within each of these topics require urgent attention and agreement. The scores to assess severity of bleeding are not reliable, and lead to no consensus definition of severe bleeding phenotype. The joint status is to be redefined in light of new, more efficient treatments with an agreement to establish one scale as the unique reference for joint health. Further discussion is needed to establish the appropriateness of high-intensity physical activities according to patient profiles, especially because sustaining trough factor levels within the safe range is not always warranted for long periods. Importantly, many physicians do not benefit from the advantages provided by the programs based on population pharmacokinetic models to guide individualized prophylaxis through more efficient and cost-saving strategies. Finally, ensuring correct adherence to long-term treatments may be time-consuming for practitioners, who often have to encourage patients and review complex questionnaires. In summary, we identify five cornerstones that influence prophylaxis and discuss the main conflicting concerns that challenge the proper long-term management of hemophilia. A consensus exercise is warranted to provide reliable guidelines and maximize benefit from recently developed tools that should notably improve patients' quality of life.
强烈建议对血友病患者进行预防出血的治疗。新型药物和个性化预防建模工具的开发，为血友病患者过上积极生活、获得与非血友病个体相当的生活质量提供了途径。治疗方案的选择必须高度个体化。不幸的是，参考指南的建议并不总是一致，也未提供涵盖所有可能情况的指导。在本综述中，一组专家利用他们在该疾病方面的临床经验，并通过严格的文献更新支持，确定了预防治疗的重大局限性和未满足的需求。为了更系统、全面地寻找差距，首先确定了影响预防模式决策的主要基石。出血表型、关节状况、身体活动、药代动力学/药物特性以及治疗依从性被视为主要支柱，应使指导预防治疗的医生能够确保获得最佳结果。在这些主题中的每一个都发现了一些挑战，需要紧急关注并达成共识。评估出血严重程度的评分不可靠，且未就严重出血表型达成共识定义。鉴于新的、更有效的治疗方法，关节状况需要重新定义，并达成一致建立一个量表作为关节健康的唯一参考标准。需要进一步讨论根据患者情况确定高强度身体活动的适宜性，特别是因为并非总能长期保证谷值因子水平维持在安全范围内。重要的是，许多医生无法从基于群体药代动力学模型的方案中受益，这些方案可通过更有效和节省成本的策略指导个体化预防治疗。最后，确保患者正确坚持长期治疗对从业者来说可能很耗时，他们通常不得不鼓励患者并审查复杂的问卷。总之，我们确定了影响预防治疗的五个基石，并讨论了挑战血友病长期正确管理的主要矛盾问题。有必要进行一次共识活动，以提供可靠的指导方针，并最大限度地从最近开发的工具中获益，这些工具应能显著改善患者的生活质量。
