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- Title
Rare bleeding disorders - bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency.
- Authors
James, P.; Salomon, O.; Mikovic, D.; Peyvandi, F.
- Abstract
Rare bleeding disorders ( RBDs) are inherited deficiencies of coagulation factors such as fibrinogen, factor (F) II, FV, FVII, combined FV+ FVIII, FX, FXI and FXIII. These disorders usually have a low prevalence in the general population and constitute approximately 3-5% of all coagulation disorders. However, in some countries they may have the same prevalence as haemophilia B due to the practice of consanguineous marriage. The clinical picture of RBDs is highly variable and can vary markedly from mild to severe, making both diagnosis and optimal treatment quite challenging. This review focuses on: (i) the efforts to establish a bleeding assessment tool adequate to RBDs, (ii) the optimal management of patients affected with FXI deficiency and (iii) the correlation between clinical severity and laboratory diagnosis when determining the minimum coagulant activity required to prevent bleeding in each RBD.
- Subjects
RARE diseases; BLOOD coagulation disorders; BLOOD coagulation factors; HEMOPHILIA; HEMORRHAGE
- Publication
Haemophilia, 2014, Vol 20, p71
- ISSN
1351-8216
- Publication type
Article
- DOI
10.1111/hae.12402