凝血因子
血友病
凝结
因子IX
预期寿命
医学
关节病
血友病A
疾病
凝血病
血友病B
免疫学
儿科
内科学
病理
骨关节炎
人口
替代医学
环境卫生
作者
Erik Berntorp,Kathelijn Fischer,Daniel P. Hart,Maria Elisa Mancuso,David Stephensen,Amy D. Shapiro,Victor S. Blanchette
标识
DOI:10.1038/s41572-021-00278-x
摘要
Haemophilia A and B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of levels of FVIII or FIX, which are determined by the type of the causative mutation in the genes encoding the factors (F8 and F9, respectively). The hallmark clinical characteristic, especially in untreated severe forms, is bleeding (spontaneous or after trauma) into major joints such as ankles, knees and elbows, which can result in the development of arthropathy. Intracranial bleeds and bleeds into internal organs may be life-threatening. The median life expectancy was ~30 years until the 1960s, but improved understanding of the disorder and development of efficacious therapy based on prophylactic replacement of the missing factor has caused a paradigm shift, and today individuals with haemophilia can look forward to a virtually normal life expectancy and quality of life. Nevertheless, the potential development of inhibitory antibodies to infused factor is still a major hurdle to overcome in a substantial proportion of patients. Finally, gene therapy for both types of haemophilia has progressed remarkably and could soon become a reality.
科研通智能强力驱动
Strongly Powered by AbleSci AI