Primary thombophilia. Report of 93 cases and 12 asymptomatic relatives

dc.contributor.authorSrur, E
dc.contributor.authorVargas, C
dc.contributor.authorSalas, S
dc.contributor.authorParra, JA
dc.contributor.authorBianchi, V
dc.contributor.authorMezzano, D
dc.contributor.authorMunoz, B
dc.contributor.authorVasquez, M
dc.contributor.authorPacheco, E
dc.date.accessioned2024-01-10T13:16:38Z
dc.date.available2024-01-10T13:16:38Z
dc.date.issued2004
dc.description.abstractBackground: Thrombophilia is defined as an altered hemostasis that predisposes to thrombosis. It can be primary when there is a family clustering of the disease or secondary, when it is associated to an acquired risk factor. Aim: to report clinical features in a series of patients with primary thrombophilia. Material and methods: Review of clinical records of patients with thrombotic episodes that lead to the suspicios of primary thrombophilia. Analysis of asymptomatic adult close relatives of these patients. Results: We repot 93 subjects (56 females, age range 14-77 years) with repeated episodes of thrombosis and a family history of thrombosis. Twenty four percent had protein C deficiency, 24% had antithrombin III deficiency, 18% had resistance to activated C protein by factor V Leiden, 10% had protein S deficiency, and 10% had the G20210 mutation of prothrombin gene. Among acquired defects studied simultaneously, 30% had lupus anticoagulent and 11% had hyperhomocysteinemia. Twenty four percent of cases had more than one thrombophilic risk factor. Among asymptomatic relatives, five had factor V Leiden, four had protein C deficiency and three had the G20210 mutation of prothrombin gene. Conclusions: Thrombophilia must be suspected in young subjects with thrombotic episode and a family history. the type of coagulation defect will determine prognosis, and the type of treatment (Rev Med Chile 2004; 132: 1466-73).
dc.format.extent8 páginas
dc.fuente.origenWOS
dc.identifier.eissn0717-6163
dc.identifier.issn0034-9887
dc.identifier.pubmedidMEDLINE:15743157
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/78600
dc.identifier.wosidWOS:000226878600003
dc.information.autorucMedicina;Mezzano D;S/I;99455
dc.issue.numero12
dc.language.isoes
dc.nota.accesoSin adjunto
dc.pagina.final1473
dc.pagina.inicio1466
dc.publisherSOC MEDICA SANTIAGO
dc.revistaREVISTA MEDICA DE CHILE
dc.rightsregistro bibliográfico
dc.subjectantitbrombin III deficiency
dc.subjectfactor v leyden
dc.subjectthrombophilia
dc.subjectACTIVATED PROTEIN-C
dc.subjectVENOUS THROMBOSIS
dc.subjectANTITHROMBIN-III
dc.subjectFACTOR-V
dc.subjectTHROMBOPHILIA
dc.subjectRESISTANCE
dc.subject.ods03 Good Health and Well-being
dc.subject.ods05 Gender Equality
dc.subject.odspa03 Salud y bienestar
dc.subject.odspa05 Igualdad de género
dc.titlePrimary thombophilia. Report of 93 cases and 12 asymptomatic relatives
dc.typeartículo
dc.volumen132
sipa.codpersvinculados99455
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
Files