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2014 ; 20 Suppl 4
(0 4
): 71-5
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Rare bleeding disorders - bleeding assessment tools, laboratory aspects and
phenotype and therapy of FXI deficiency
#MMPMID24762279
James P
; Salomon O
; Mikovic D
; Peyvandi F
Haemophilia
2014[May]; 20 Suppl 4
(0 4
): 71-5
PMID24762279
show ga
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.