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- W2066851504 abstract "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." @default.
- W2066851504 created "2016-06-24" @default.
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- W2066851504 creator A5043909538 @default.
- W2066851504 creator A5066523341 @default.
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- W2066851504 date "2009-10-01" @default.
- W2066851504 modified "2023-09-29" @default.
- W2066851504 title "Treatment of congenital fibrinogen deficiency: overview and recent findings" @default.
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- W2066851504 doi "https://doi.org/10.2147/vhrm.s5305" @default.
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