Rare inherited coagulation disorders: no longer orphan and neglected.

coagulation rebalancing agents nonfactor products plasma-derived factors prophylaxis recessive coagulation disorders recombinant coagulant factors

Journal

Research and practice in thrombosis and haemostasis
ISSN: 2475-0379
Titre abrégé: Res Pract Thromb Haemost
Pays: United States
ID NLM: 101703775

Informations de publication

Date de publication:
May 2024
Historique:
received: 20 03 2024
revised: 03 05 2024
accepted: 18 05 2024
medline: 18 7 2024
pubmed: 18 7 2024
entrez: 18 7 2024
Statut: epublish

Résumé

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.

Identifiants

pubmed: 39022653
doi: 10.1016/j.rpth.2024.102460
pii: S2475-0379(24)00149-3
pmc: PMC11253144
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

102460

Informations de copyright

© 2024 The Author(s).

Auteurs

Samin Mohsenian (S)

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Pier Mannuccio Mannucci (PM)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

Marzia Menegatti (M)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

Flora Peyvandi (F)

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.

Classifications MeSH