Rare inherited coagulation disorders: no longer orphan and neglected

Res Pract Thromb Haemost. 2024 May 27;8(4):102460. doi: 10.1016/j.rpth.2024.102460. eCollection 2024 May.

Abstract

Rare inherited coagulation disorders due to the deficiency or dysfunction of coagulation factors have until recently received less clinical attention than hemophilias and von Willebrand disease. This situation has changed in the last decades, mainly due to therapeutic progress with the availability of more and safer products for replacement therapy produced by plasma fractionation or recombinant DNA technology. This narrative review, based on the latest literature and expert opinion, emphasizes the progress achieved for each of the rare deficiencies, mentions the still unmet therapeutic needs, and sketches the perspectives for further progress.

Keywords: coagulation rebalancing agents; nonfactor products; plasma-derived factors; prophylaxis; recessive coagulation disorders; recombinant coagulant factors.

Publication types

  • Review