[PUBLICATION] Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease

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le 6 mai 2020

Collaborative research project led by Prof. Maillot

Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease


Gaucher disease is a rare inborn error of lysosomal metabolism, characterized by lysosomal storage of the β-glucosylceramide. Bleedings observed in type-1 Gaucher disease (GD1) are commonly attributed to a low platelet count, but they can also occur when the platelet count is normal or slightly low. Abnormal platelet function has been described and deficiencies in coagulation factors too, such as factors II, V, VII, VIII, IX, X, XI, XII, and von Willebrand factor. However, studies are few in number, involving few patients and having varying conclusions. The aim of this study was to analyze clotting factor deficiencies in a larger cohort of French patients with GD1.

This is an observational national study. The coagulation parameters were collected during routine GD1 monitoring and described retrospectively.

We highlighted low levels of various coagulation factors in 46% of the patients with GD1. The most frequent coagulation abnormalities encountered were factor V, X, XI, and XII deficiencies. Deficits were usually mild and coagulation abnormalities tended to be more frequent in non-splenectomized patients.

In conclusion, frequent and varied coagulation abnormalities were found in a high proportion of GD1 patients.

Copyright 2019, Serratrice et al.


#Clottingfactors #Coagulation #Gaucherdisease #Lysosomalstoragedisorder
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