Mohsenian Samin, Mannucci Pier Mannuccio, Menegatti Marzia, Peyvandi Flora
Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Res Pract Thromb Haemost. 2024 May 27;8(4):102460. doi: 10.1016/j.rpth.2024.102460. eCollection 2024 May.
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.
由于凝血因子缺乏或功能障碍导致的罕见遗传性凝血障碍,直到最近在临床上受到的关注仍少于血友病和血管性血友病。在过去几十年中,这种情况发生了变化,这主要归功于治疗方面的进展,血浆分离或重组DNA技术生产出了更多更安全的替代疗法产品。这篇基于最新文献和专家意见的叙述性综述,强调了每种罕见凝血因子缺乏症所取得的进展,提及了尚未满足的治疗需求,并勾勒了进一步进展的前景。