Division of Hematology, Hemostasis and Thrombosis Unit, Saint-Luc University Hospital, Université catholique de Louvain (UCLouvain), Brussels, Belgium.
Department of Medicine, University of Washington, Seattle, Washington, USA.
Haemophilia. 2024 Apr;30 Suppl 3:45-51. doi: 10.1111/hae.14983. Epub 2024 Mar 26.
Raising awareness and improving recognition, accurate classification, and enhanced access to new treatments represent current key challenges for carriers of haemophilia. Women and girls carrying genes for haemophilia often experience significant bleeding and/or low factor levels. The bleeding associated with female haemophilia is frequently overlooked, has a weak correlation with factor levels, and manifests differently than in males, with heavy menstrual bleeding being a predominant symptom. Recent changes in terminology now allow the diagnosis of haemophilia in females with low factor levels and differentiate between symptomatic and asymptomatic carriers of the gene. Observations from real-world experiences and limited clinical trial data have highlighted the positive impact of various new haemophilia treatments for women and girls with clotting factor deficiencies. There is an urgent need for initiatives that increase their access to these treatments and encourage well-designed clinical trials focusing on female-specific outcomes. In women with inherited bleeding disorders, early recognition and optimal management of heavy menstrual bleeding are crucial. However, treatment options and guidance from high-quality clinical trials are currently insufficient. Menstrual health assessment should be a regular part of monitoring women and girls with inherited bleeding disorders throughout their lives, emphasizing the importance of gathering data to improve future management.
提高认识和识别能力,准确分类,并增加获得新治疗方法的机会,这是目前携带血友病基因人群面临的主要挑战。携带血友病基因的女性和女孩经常经历明显的出血和/或低因子水平。与女性血友病相关的出血常常被忽视,与因子水平的相关性较弱,且表现与男性不同,月经过多是主要症状。最近术语的变化现在允许对低因子水平的女性进行血友病诊断,并区分症状性和无症状性基因携带者。来自真实世界经验和有限临床试验数据的观察结果强调了各种新型血友病治疗方法对患有凝血因子缺乏症的女性和女孩的积极影响。迫切需要采取措施增加她们获得这些治疗方法的机会,并鼓励针对女性特定结局的精心设计的临床试验。在患有遗传性出血性疾病的女性中,早期识别和优化月经过多的管理至关重要。然而,目前治疗选择和高质量临床试验的指导还远远不够。月经健康评估应该成为监测患有遗传性出血性疾病的女性和女孩一生的常规内容,强调收集数据以改善未来管理的重要性。