title: Inherited platelet function disorders. Diagnostic approach and management.
abstract: Inherited platelet function disorders (IPFDs) make up a significant proportion of congenital bleeding diatheses, but they remain poorly understood and often difficult to diagnose. Therefore, a rational diagnostic approach, based on a standardized sequence of laboratory tests, with consecutive steps of increasing level of complexity, plays a crucial role in the diagnosis of most IPFDs. In this review we discuss a diagnostic approach through platelet phenotyping and genotyping and we give an overview of the options for the management of bleeding in these disorders and an account of the few systematic studies on the bleeding risk associated with invasive procedures and its treatment.
authors.affiliation: Paolo Gresele, MD, PhD, Division of Internal and Cardiovascular Medicine Department of Medicine, University of Perugia, Via E. dal Pozzo, 06126 Perugia, Italy, Tel. +39/07 55 78 39 89, Fax +39/07 55 71 60 83, E-Mail: paolo.gresele@unipg.it.
authors.forename: Paolo
authors.initials: P
authors.lastname: Gresele
authors.forename: Emanuela
authors.initials: E
authors.lastname: Falcinelli
authors.forename: Loredana
authors.initials: L
authors.lastname: Bury
mesh_terms: D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D001780:Blood Coagulation Tests / Q000379:methods; D001791:Blood Platelet Disorders / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D001792:Blood Platelets / Q000473:pathology*; D003937:Diagnosis, Differential; D019317:Evidence-Based Medicine; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006470:Hemorrhage / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D017713:Platelet Transfusion / Q000379:methods; D016896:Treatment Outcome
chemical_list: D000933:Antifibrinolytic Agents; D005819:Genetic Markers
keywords: Bleeding; diagnostic algorithm; inherited platelet function disorders; prophylaxis and Treatment