Premium
Rare bleeding disorders – bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency
Author(s) -
James P.,
Salomon O.,
Mikovic D.,
Peyvandi F.
Publication year - 2014
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/hae.12402
Subject(s) - medicine , haemophilia , coagulation , population , coagulation disorder , hemostasis , pediatrics , clotting factor , intensive care medicine , environmental health
Summary Rare bleeding disorders ( RBD s) 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 RBD s 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 RBD s, (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 .