title: A diagnostic approach to mild bleeding disorders.
abstract: 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.
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Boender
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
authors.forename: M J H A
authors.initials: MJ
authors.lastname: Kruip
authors.affiliation: Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
authors.forename: F W G
authors.initials: FW
authors.lastname: Leebeek
mesh_terms: D001777:Blood Coagulation; D001791:Blood Platelet Disorders / Q000175:diagnosis*; D001792:Blood Platelets / Q000378:metabolism; D003029:Coagulants / Q000494:pharmacology; D005342:Fibrinolysis; D005820:Genetic Testing; D006405:Hematology / Q000379:methods*; D006467:Hemophilia A / Q000175:diagnosis; D002836:Hemophilia B / Q000175:diagnosis; D006470:Hemorrhage / Q000175:diagnosis*; D006474:Hemorrhagic Disorders / Q000175:diagnosis*; D006487:Hemostasis; D006801:Humans; D009154:Mutation; D014842:von Willebrand Diseases / Q000175:diagnosis
chemical_list: D003029:Coagulants
keywords: DNA sequencing; bleeding disorder; bleeding score; blood coagulation disorders; diagnosis; hemostasis