Laboratory Assessment of Familial, Nonthrombocytopenic Bleeding: A Definitive Not Possible Mucocutaneous Diagnosis Is Often Not Possible

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dc.contributor.authorPereira, Jaime
dc.contributor.authorQuiroga, Teresa
dc.contributor.authorMezzano, Diego
dc.date.accessioned2024-01-10T12:06:16Z
dc.date.available2024-01-10T12:06:16Z
dc.date.issued2008
dc.description.abstractPatients with inherited mucocutaneous bleeding (MCB) pose frequent and significant diagnostic challenges. Bleeding symptoms are frequent among the otherwise healthy population, and the clinical distinction between normal subjects and patients with genuine bleeding disorders is complex. Screening or global laboratory assays are nonspecific and have low sensitivity to detect mild bleeding disorders. Moreover, there are inherent difficulties in diagnosing von Willebrand disease and platelet function defects, the best-characterized and most frequent disorders of primary hemostasis. On the other hand, some patients with moderate to severe clotting factor deficiencies and those with increased fibrinolysis usually present with MCB. Finally, in a significant proportion of patients, the definitive diagnosis is not possible even after an extensive laboratory workup. This article reviews the clinical and laboratory approach to the diagnosis of patients presenting with MCB, the limitations of the available methodologies to evaluate the clinical significance of bleeding, and the diagnostic yield of global and specific hemostasis tests used to investigate these patients.
dc.description.funderFondecyt, Chile
dc.fechaingreso.objetodigital2024-04-25
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1055/s-0028-1104544
dc.identifier.eissn1098-9064
dc.identifier.issn0094-6176
dc.identifier.pubmedidMEDLINE:19085766
dc.identifier.urihttps://doi.org/10.1055/s-0028-1104544
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/76138
dc.identifier.wosidWOS:000262221700009
dc.information.autorucMedicina;Mezzano D;S/I;99455
dc.information.autorucMedicina;Pereira J;S/I;99371
dc.information.autorucMedicina;Quiroga T;S/I;52601
dc.issue.numero7
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final662
dc.pagina.inicio654
dc.publisherTHIEME MEDICAL PUBL INC
dc.revistaSEMINARS IN THROMBOSIS AND HEMOSTASIS
dc.rightsacceso restringido
dc.subjectMucocutaneous bleeding
dc.subjectdisorders of primary hemostasis
dc.subjectlaboratory diagnosis
dc.subjectplatelet function testing
dc.subjectVON-WILLEBRAND-DISEASE
dc.subjectPLATELET-FUNCTION
dc.subjectCLOSURE TIME
dc.subjectDISORDERS
dc.subjectWOMEN
dc.subjectPFA-100(R)
dc.subjectDEFICIENCY
dc.subjectTYPE-1
dc.subjectANALYZER
dc.subjectMENORRHAGIA
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleLaboratory Assessment of Familial, Nonthrombocytopenic Bleeding: A Definitive Not Possible Mucocutaneous Diagnosis Is Often Not Possible
dc.typeartículo
dc.volumen34
sipa.codpersvinculados99455
sipa.codpersvinculados99371
sipa.codpersvinculados52601
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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