TY - JOUR
T1 - Rare bleeding disorders - bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency
AU - James, P.
AU - Salomon, O.
AU - Mikovic, D.
AU - Peyvandi, F.
PY - 2014/5
Y1 - 2014/5
N2 - 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.
AB - 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.
KW - Bleeding assessment tools
KW - Clinical severity
KW - Factor XI treatment
KW - Laboratory classification
KW - Rare bleeding disorders
UR - http://www.scopus.com/inward/record.url?scp=84899506536&partnerID=8YFLogxK
U2 - 10.1111/hae.12402
DO - 10.1111/hae.12402
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C2 - 24762279
AN - SCOPUS:84899506536
VL - 20
SP - 71
EP - 75
JO - Haemophilia
JF - Haemophilia
SN - 1351-8216
IS - S4
ER -