Asunto(s)
Enfermedades de von Willebrand , Adenocarcinoma/diagnóstico , Adenocarcinoma/patología , Adenocarcinoma/cirugía , Adenoma/patología , Adenoma/cirugía , Anciano , Biopsia , Tiempo de Sangría , Neoplasias del Ciego/diagnóstico , Neoplasias del Ciego/patología , Neoplasias del Ciego/cirugía , Ciego/patología , Colectomía , Humanos , Masculino , Estadificación de Neoplasias , Neoplasias del Colon Sigmoide/patología , Neoplasias del Colon Sigmoide/cirugía , Trombocitopenia/clasificación , Trombocitopenia/diagnóstico , Resultado del Tratamiento , Enfermedades de von Willebrand/sangre , Enfermedades de von Willebrand/clasificación , Enfermedades de von Willebrand/diagnóstico , Enfermedades de von Willebrand/genética , Factor de von Willebrand/análisisRESUMEN
BACKGROUND AND OBJECTIVES: Inherited factor VII (FVII) deficiency is a rare bleeding disorder characterized by a poor relationship between reported FVII clotting activity (FVII:C) and bleeding tendency. Our study was aimed at defining biological parameters that are possibly predictive for bleeding risk in this condition. DESIGN AND METHODS: Forty-two FVII-deficient patients (FVII:C <30%) were classified into two opposite clinical groups defined as severe and non-or-mild bleeders. For each patient, plasma samples were collected and then investigated for FVII:C (using a sensitive method and human recombinant thromboplastin as the reagent), FVII antigen, activated FVII coagulant activity (FVIIa:C) and the free-form of tissue factor pathway inhibitor. RESULTS: None of these tests could be used as highly accurate predictors of bleeding. Nevertheless, both FVII:C and FVIIa:C differed significantly between the two clinical groups. Using ROC-curve analysis, two critical values of 8% and 3mIU/mL for FVII:C and FVIIa:C, respectively, could be proposed to discriminate between severe bleeders and non-or-mild bleeders. INTERPRETATION AND CONCLUSIONS: A highly accurate diagnostic test for predicting bleeding tendency in inherited FVII deficiency still eludes definition, highlighting the fact that factors other than FVII itself interfere with the expression of bleeding phenotypes in this condition. Nevertheless, potential critical values using sensitive FVII:C and FVIIa:C methods may be useful in clinical laboratories for FVII-deficient patients. Those patients with FVII:C levels higher than 8% FVII:C or FVIIa:C higher than 3 mIU/mL, with no other hemostatic defect, seem to have a minimal risk of severe bleeding. Extended clinical studies are needed to support these findings.
Asunto(s)
Deficiencia del Factor VII/diagnóstico , Factor VII/análisis , Adolescente , Adulto , Trastornos de la Coagulación Sanguínea Heredados , Niño , Preescolar , Deficiencia del Factor VII/sangre , Femenino , Hemorragia/sangre , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Riesgo , Índice de Severidad de la EnfermedadRESUMEN
Congenital deficiencies of protein S (PS) are associated with thrombophilia. Their characterization and classification have been hampered by the complex physiology of the protein C-protein S system and the poor standardization and reliability of laboratory assays. The free active form of protein S is usually determined by immunoassay using polyclonal antibodies in the plasma supernate after polyethyleneglycol (PEG) precipitation. A new one step ELISA using two monoclonal antibodies specific for distinct epitopes of the free form of protein S has been developed for the direct measurement of free PS in untreated plasma. We have tested two ELISA assays for free PS. One assay was based on the PEG precipitation (Asserachrom PS, Stago, Asnières, France) whereas the other was a one step ELISA assay (Asserachrom free PS, Stago). Values were obtained in 35 PS deficient patients recruited among 500 consecutive patients evaluated by the laboratory for diagnosis of congenital disorders of coagulation. Values were compared to those obtained in 50 patients with no PS deficiency matched for age and sex with the PS deficient patients as well as in 33 normal subjects and in 12 pregnant women. Strong correlation was found between the two tests (r = 0.81, p < 10(-5)) in the entire population (n = 130), as well as in the separate groups. The new one step ELISA was more accurate than the PEG free PS determination. Determination of PS activity and antigens allowed us to separate quantitative and qualitative deficiencies. Among the qualitative deficiencies, isolated decrease in PS activity was the most frequent defect observed (66%). This fact questions the substitution of PS activity assays by the one step antigenic free PS ELISA assay.