Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity

摘要

Rare bleeding disorders (RBDs) include the inherited deficiencies of coagulation factors, fibrinogen, factor (F)II, FV, FV + FVIII, FVII, FX, FXI and FXIII, and are usually transmitted as autosomal recessive disorders [1]. Due to their rarity, they sometimes present significant challenges in diagnosis and treatment [2]. The development of guidelines for classification and treatment of these disorders has been hampered by a lack of sufficient knowledge about epidemiology and clinical outcomes, the difficulty in recognizing affected patients and coEecting longitudinal clinical data, the limits of laboratory assays, and a lack of consensus concerning the criteria by which these disorders are classified. A collaboration among experts on RBDs was therefore proposed.