Bolton-Maggs P H B, Perry D J, Chalmers E A, Parapia L A, Wilde J T, Williams M D, Collins P W, Kitchen S, Dolan G, Mumford A D
Department of Clinical Haematology, Manchester Royal Infirmary, Manchester, UK.
Haemophilia. 2004 Sep;10(5):593-628. doi: 10.1111/j.1365-2516.2004.00944.x.
The rare coagulation disorders are heritable abnormalities of haemostasis that may present significant difficulties in diagnosis and management. This review summarizes the current literature for disorders of fibrinogen, and deficiencies of prothrombin, factor V, FV + VIII, FVII, FX, the combined vitamin K-dependent factors, FXI and FXIII. Based on both collective clinical experience and the literature, guidelines for management of bleeding complications are suggested with specific advice for surgery, spontaneous bleeding, management of pregnancy and the neonate. We have chosen to include a section on Ehlers-Danlos Syndrome because haematologists may be consulted about bleeding manifestations in such patients.
罕见凝血障碍是遗传性止血异常,可能在诊断和管理方面带来重大困难。本综述总结了目前关于纤维蛋白原异常、凝血酶原缺乏、因子V、FV + VIII、FVII、FX、联合维生素K依赖因子、FXI和FXIII缺乏的文献。基于临床经验和文献,提出了出血并发症的管理指南,并针对手术、自发性出血、妊娠和新生儿管理给出了具体建议。我们选择纳入关于埃勒斯-当洛综合征的章节,因为血液科医生可能会就此类患者的出血表现提供咨询。