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A diagnostic approach to mild bleeding disorders

J Boender1, M J H A Kruip1, F W G Leebeek1

  • 1Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.

Journal of Thrombosis and Haemostasis : JTH
|May 22, 2016
PubMed

Mild inherited bleeding disorders are relatively common in the general population. Despite recent advances in diagnostic approaches, mild inherited bleeding disorders still pose a significant diagnostic challenge. Hemorrhagic diathesis can be caused by disorders in primary hemostasis (von Willebrand disease, inherited platelet function disorders), secondary hemostasis (hemophilia A and B, other (rare) coagulant factor deficiencies) and fibrinolysis, and in connective tissue or vascular formation. This review summarizes the currently available diagnostic methods for mild bleeding disorders and their pitfalls, from structured patient history to highly specialized laboratory diagnosis. A comprehensive framework for a diagnostic approach to mild inherited bleeding disorders is proposed.

Keywords:
DNA sequencingbleeding disorderbleeding scoreblood coagulation disordersdiagnosishemostasis

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