Bolton-Maggs Paula H B
Manchester Haemophilia Comprehensive Care Centre, Manchester Royal Infirmary, Manchester, UK.
Br J Haematol. 2006 Mar;132(6):671-82. doi: 10.1111/j.1365-2141.2005.05952.x.
Haemophilia A and B are inherited bleeding disorders whose diagnosis and management is generally well established and best provided by specialists in a comprehensive care setting. Patients may be put at unnecessary risk if appropriate expertise is not sought for the management of accidents and surgery. The delivery of a high quality comprehensive service to patients with bleeding disorders depends upon defined standards and a network of haemophilia centres in the UK with similar models in other countries. In developing countries, despite a shortage or absence of treatment products, development of local expertise results in an improved outlook and reduction in mortality. Optimal care for severe haemophilia includes accurate diagnosis, early and adequate factor replacement for bleeding episodes and the provision of prophylaxis from an early age to prevent joint bleeding and the consequent arthropathy. Haemophilia treatment is expensive resulting in considerable inequity in provision of care across the world. Despite decades of experience, optimal treatment levels are not robustly defined. Transfusion-transmitted infections continue to have a significant impact on patient management. The development of inhibitory antibodies seriously complicates the management both in morbidity and cost. While gene therapy has not yet produced the hoped-for cure, new technologies will produce improved products.
甲型和乙型血友病是遗传性出血性疾病，其诊断和管理通常已得到充分确立，最好由综合护理环境中的专家提供。如果在处理事故和手术时未寻求适当的专业知识，患者可能会面临不必要的风险。为出血性疾病患者提供高质量的综合服务取决于明确的标准以及英国血友病中心网络，其他国家也有类似模式。在发展中国家，尽管缺乏或没有治疗产品，但当地专业知识的发展会改善前景并降低死亡率。对重度血友病的最佳护理包括准确诊断、对出血发作进行早期和充分的凝血因子替代治疗，以及从幼年开始提供预防措施以防止关节出血和随之而来的关节病。血友病治疗费用高昂，导致全球在护理提供方面存在相当大的不公平性。尽管有几十年的经验，但最佳治疗水平尚未得到明确界定。输血传播感染继续对患者管理产生重大影响。抑制性抗体的产生使管理在发病率和成本方面都严重复杂化。虽然基因疗法尚未带来预期的治愈效果，但新技术将生产出改进的产品。
