Institute for Policy Advancement, Ltd., Washington, DC, USA.
McMaster University, Hamilton, ON, Canada.
Haemophilia. 2020 Jan;26(1):17-24. doi: 10.1111/hae.13862. Epub 2019 Nov 13.
Historically, treatment based on the availability of clotting factor replacement has resulted in an arcane guideline for the correction of factor deficiencies in people with haemophilia (PwH). While all other disease entities seek to restore function to a normal level, PwH are restricted to factor nadirs still equivalent to mild or moderate disease, resulting in continued risk of bleeding. A new treatment paradigm is needed based on the defined needs of PwH. A treatment model was developed by a panel of haemophilia providers, patient advocates and health economists to establish specific treatment milestones and targeted outcomes. The panel defined a series of treatment milestones to characterize the activity and outcomes linked to level of factor deficiency correction. All agreed that the ultimate goal should be 'functional cure' and 'health equity'. Seven levels to achieving a functional cure were identified, (a) Sustain life; (b) Minimal joint impairment; (c) Freedom from any spontaneous bleeds; (d) Attainment of 'normal' mobility; (e) Able to sustain minor trauma without additional intervention; (f) Ability to sustain major surgery or trauma; and (g) Normal haemostasis. A parallel set of patient-reported outcomes to achieve health equity was identified. These guidelines are now comparable with other disorders where the goal is to replace missing proteins to attain normal activity levels. As we are no longer limited by plasma supply due to the manufacture of recombinant factors, mimetics, and the early success of gene therapy, health equity is now achievable.
从历史上看，基于凝血因子替代物的可用性的治疗方法导致了血友病患者（PwH）因子缺乏纠正的神秘指南。虽然所有其他疾病实体都试图将功能恢复到正常水平，但 PwH 仍然受到相当于轻度或中度疾病的因子最低点的限制，从而继续存在出血风险。需要基于 PwH 的明确需求制定新的治疗模式。一个由血友病提供者、患者倡导者和卫生经济学家组成的小组制定了一种治疗模式，以确定特定的治疗里程碑和目标结果。该小组定义了一系列治疗里程碑，以描述与因子缺乏纠正水平相关的活动和结果。所有人都同意，最终目标应该是“功能性治愈”和“健康公平”。确定了实现功能性治愈的七个水平，（a）维持生命；（b）最小的关节损伤；（c）无自发性出血；（d）达到“正常”活动能力；（e）能够承受轻微创伤而无需额外干预；（f）能够承受大手术或创伤；和（g）正常止血。还确定了一组实现健康公平的患者报告结果。这些指南现在可以与其他旨在替代缺失蛋白质以达到正常活动水平的疾病相媲美。由于我们不再受到由于重组因子、模拟物的制造以及基因治疗的早期成功而导致的血浆供应的限制，因此现在可以实现健康公平。
