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Review
. 2023 Jun;110(6):584-601.
doi: 10.1111/ejh.13941. Epub 2023 Feb 20.

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

Marc Trossaert  1 , Valerie Chamouard  2 , Christine Biron-Andreani  3 , Alessandro Casini  4 , Philippe De Mazancourt  5 , Emmanuelle De Raucourt  6 , Nicolas Drillaud  1 , Birgit Frotscher  7 , Benoit Guillet  8 , Aurelien Lebreton  9 , Valerie Roussel-Robert  10 , Lucia Rugeri  2 , Yesim Dargaud  2
Affiliations
Review

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

Marc Trossaert et al. Eur J Haematol. 2023 Jun.

Abstract

Introduction: The rare coagulation disorders may present significant difficulties in diagnosis and management. In addition, considerable inter-individual variation in bleeding phenotype is observed amongst affected individuals, making the bleeding risk difficult to assess in affected individuals. The last international recommendations on rare inherited bleeding disorders (RIBDs) were published by the United Kingdom Haemophilia Centre Doctors' Organisation in 2014. Since then, new drugs have been marketed, news studies on surgery management in patients with RIBD have been published, and new orphan diseases have been described.

Aim: Therefore, the two main objectives of this review, based on the recent recommendations published by the French Reference Centre on Haemophilia and Rare Bleeding Disorders, are: (i) to briefly describe RIBD (clinical presentation and diagnostic work-up) to help physicians in patient screening for the early detection of such disorders; and (ii) to focus on the current management of acute haemorrhages and long term prophylaxis, surgical interventions, and pregnancy/delivery in patients with RIBD.

Keywords: acute haemorrhage; coagulation factor deficiency; pregnancy; prophylaxis; rare bleeding disorders; surgery.

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References

REFERENCES

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