Haemophilia 2014[May]; 20 (0 4): 71-5 PMID24762279show ga
Rare bleeding disorders (RBDs) are inherited deficiencies of coagulation factors as fibrinogen, Factor (F) FII, FV, FVII, combined FV/FVIII, FX, FXI, and FXIII. These disorders have usually a low prevalence in the general population and constitute approximately 3 to 5% of all coagulation disorders. However, in some countries they could have the same prevalence of hemophilia B due to the practice of consanguineous marriage. The clinical picture of RBDs are highly variable and could markedly vary from mild to severe, making either diagnosis and optimal treatment quiet challenging. This review focuses on 1) efforts to establish a bleeding assessment tool adequate to RBDs, 2) the optimal management of patient affected with FXI deficiency and 3) the correlation between clinical severity and laboratory diagnosis for determining the minimum coagulant activity required to prevent bleeding in each RBD.