文章基本信息

标题：Treatment of congenital fibrinogen deficiency: overview and recent findings
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作者：Konstantinos Tziomalos ; Sofia Vakalopoulou ; Vassilios Perifanis 等
期刊名称：Vascular Health and Risk Management
印刷版ISSN：1176-6344
电子版ISSN：1178-2048
出版年度：2009
卷号：5
页码：843-848
DOI：10.2147/VHRM.S5305
出版社：Dove Medical Press Ltd
摘要：Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:1,000,000. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encode the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4. Spontaneous bleeding, bleeding after minor trauma and excessive bleeding during interventional procedures are the principal manifestations. We review the management of afibrinogenemia. Replacement therapy is the mainstay of treatment of bleeding episodes in these patients and plasma-derived fibrinogen concentrate is the agent of choice. Cryoprecipitate and fresh frozen plasma are alternative treatments that should be used only when fibrinogen concentrate is not available. Secondary prophylactic treatment may be considered after life-threatening bleeding whereas primary prophylactic treatment is not currently recommended. We also discuss alternative treatment options and the management of surgery, pregnancy and thrombosis in these patients. The development of new tests to identify higher risk patients and of safer replacement therapy will improve the management of afibrinogenemia in the future.
关键词：afibrinogenemia; fibrinogen concentrate; cryoprecipitate; fresh frozen plasma; rare bleeding disorders