TY - JOUR
T1 - Rare bleeding disorders
AU - Peyvandi, Flora
AU - Bolton-Maggs, Paula Hb
AU - Batorova, Angelika
AU - De Moerloose, Philippe
PY - 2012/7
Y1 - 2012/7
N2 - Rare bleeding disorders (RBDs) include the inherited deficiencies of fibrinogen, factor (F)II, FV, FV+FVIII, FVII, FX, FXI and FXIII. There have been remarkable advances in understanding the molecular profiles that lead to each type of coagulation factor deficiency. However, as a consequence of their rarity, clinical data regarding the characteristics of bleeding symptoms and their management remain limited. The clinical manifestations in different RBDs are heterogeneous, and the residual plasma coagulant factor level does not always predict bleeding tendency. In this review, we describe the general features and recent advances in understanding three such deficiencies: FXI, FVII and fibrinogen deficiencies.
AB - Rare bleeding disorders (RBDs) include the inherited deficiencies of fibrinogen, factor (F)II, FV, FV+FVIII, FVII, FX, FXI and FXIII. There have been remarkable advances in understanding the molecular profiles that lead to each type of coagulation factor deficiency. However, as a consequence of their rarity, clinical data regarding the characteristics of bleeding symptoms and their management remain limited. The clinical manifestations in different RBDs are heterogeneous, and the residual plasma coagulant factor level does not always predict bleeding tendency. In this review, we describe the general features and recent advances in understanding three such deficiencies: FXI, FVII and fibrinogen deficiencies.
KW - Factor VII
KW - Factor XI
KW - Fibrinogen
KW - Haemostasis
UR - http://www.scopus.com/inward/record.url?scp=84862856880&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84862856880&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2516.2012.02841.x
DO - 10.1111/j.1365-2516.2012.02841.x
M3 - Article
C2 - 22726099
AN - SCOPUS:84862856880
VL - 18
SP - 148
EP - 153
JO - Haemophilia
JF - Haemophilia
SN - 1351-8216
IS - SUPPL.4
ER -