Rare bleeding disorders

Flora Peyvandi; Paula Hb Bolton-Maggs; Angelika Batorova; Philippe De Moerloose

doi:10.1111/j.1365-2516.2012.02841.x

Rare bleeding disorders

Flora Peyvandi, Paula Hb Bolton-Maggs, Angelika Batorova, Philippe De Moerloose

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	148-153
Number of pages	6
Journal	Haemophilia
Volume	18
Issue number	SUPPL.4
DOIs	https://doi.org/10.1111/j.1365-2516.2012.02841.x
Publication status	Published - Jul 2012

Keywords

Factor VII
Factor XI
Fibrinogen
Haemostasis

ASJC Scopus subject areas

Hematology
Genetics(clinical)

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title = "Rare bleeding disorders",

abstract = "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.",

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AU - Bolton-Maggs, Paula Hb

AU - Batorova, Angelika

AU - De Moerloose, Philippe

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