RESUMO
INTRODUCTION: Thrombosis is one of the leading causes of morbidity and mortality worldwide. Venous thromboembolic disease (VTD) is considered a new epidemic. FXII deficiency is supposed to be a cause of thrombosis. To search for unknown causes of thrombosis in our population, our aim was to determine if FXII deficiency can be considered a risk factor for VTD. METHODS: Young adult Mexican patients with at least one VTD episode and healthy controls were included in this prospective, observational, controlled study. Liver and renal function tests, blood cytometry, and blood coagulation assays were performed. Plasma FXII activity and its concentration were evaluated. RESULTS: Over a two-year period, 250 patients and 250 controls were included. FXII activity was significantly lower in the control group compared to patients with VTD (p = 0.005). However, percentage of patients and controls with FXII deficiency was 8.8 and 9.2%, respectively (p = 1.000). No significant association was found between FXII deficiency and VTD (p = 1.0). FXII plasma concentration was lower in controls vs. patients with VTD: 4.05 vs. 6.19 ng/mL (p <0.001). Percentage of patients with low FXII plasma concentration was 1.6% and 6.0% in patients and controls, respectively (p = 0.010). CONCLUSIONS: FXII deficiency is a frequent finding in patients with VTD and controls in Mexico. Some patients with FXII deficiency had normal APTT result, an effect not described above. FXII plasma concentration was lower in patients with low activity.
Assuntos
Deficiência do Fator XII , Trombose , Humanos , Adulto Jovem , Deficiência do Fator XII/complicações , Deficiência do Fator XII/epidemiologia , México/epidemiologia , Prevalência , Estudos Prospectivos , Fator XII/metabolismoRESUMO
ANTECEDENTES: El déficit de factor XII es una enfermedad poco frecuente, relacionada con trombosis y abortos a repetición. OBJETIVO: Evaluar el resultado materno y perinatal en 25 embarazadas con déficit del factor XII. MÉTODOS: Estudio observacional descriptivo de 25 embarazadas (27 gestaciones) con esta patología desde enero 2005 a junio de 2011. RESULTADOS: La asociación de alteración del factor XII con otras trombofilias hereditarias o adquiridas es frecuente. En 24 mujeres se obtuvieron gestaciones exitosas, con sólo 3 abortos. Hubo 20 partos a término, con recién nacidos con peso y Apgar adecuado. Se registró un caso de restricción de crecimiento intrauterino. No hubo complicaciones médicas. Se utilizaron en todas las embarazadas antiagregantes y/o antitrombóticos como tratamiento. El fármaco utilizado más frecuente fue la heparina de bajo peso molecular, asociada en ocasiones al ácido acetilsalicílico. No hubo complicaciones por el uso de heparina de bajo peso molecular. CONCLUSIONES: El control multidisciplinar del embarazo y el tratamiento individualizado ha conseguido en esta patología buenos resultados maternos y neonatales.
BACKGROUND: The factor XII deficiency is a rare disease related with thrombosis and recurrent pregnancy loss. OBJECTIVE: To evaluate maternal and perinatal outcome in 25 pregnant women with deficiency of factor XII. METHODS: An observational descriptive study of 25 women with factor XII deficiency and pregnancy (27 pregnancies) between January 2005 and March 2011. RESULTS: The association with other inherited or acquired thrombophilia is common. 24 women have achieved successful pregnancies and only 3 miscarriages. There were 20 women with deliveries at term, with appropiate birth weight and Apgar test. There was one case of intrauterine growth restriction. There were no medical complications. The treatment used was antiplatelet and/or antithrombotic agents in all cases. The most used drug was low molecular weight heparin, sometimes associated to acetylsalicylic acid. CONCLUSIONS: A multidisciplinary control of the pregnancy and an individualized treatment has achieved good maternal and neonatal outcomes.
Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Deficiência do Fator XII/tratamento farmacológico , Deficiência do Fator XII/epidemiologia , Complicações Hematológicas na Gravidez , Prognóstico , Trombose/etiologia , Trombose/tratamento farmacológico , Peso ao Nascer , Inibidores da Agregação Plaquetária/uso terapêutico , Resultado da Gravidez , Aborto Espontâneo/etiologia , Aborto Espontâneo/epidemiologia , Heparina de Baixo Peso Molecular/uso terapêutico , Deficiência do Fator XII/complicações , Fibrinolíticos/uso terapêutico , Anticoagulantes/uso terapêuticoRESUMO
El Servicio de Medicina Transfusional del Centro Hospitalario Pereira Rossell es el centro de referencia nacional en el área materno infantil. En el marco del convenio MSP- Facultad de Odontología de la UDELAR, se atienden en este Servicio pacientes con diversas coagulopatías. El déficit de factor XII es una patología de baja prevalencia (1-1000000) y no existe evidenciacientífica que respalde protocolos clínicos de atención a nivel odontológico. Se presenta el caso clínico del paciente NT, portador de esta patología, de alto riesgo con alta actividad de caries, en dentición mixta, a quiense le realizó tratamiento odontológico integral con apoyo del equipo multidisciplinario que trabaja en el Servicio de Hemoterapia del CHPR. (AU) FON
Assuntos
Assistência Odontológica , Deficiência do Fator XII , CriançaRESUMO
El Servicio de Medicina Transfusional del Centro Hospitalario Pereira Rossell es el centro de referencia nacional en el área materno infantil. En el marco del convenio MSPFacultad de Odontología de la UDELAR, se atienden en este Servicio pacientes con diversas coagulopatías. El déficit de factor XII es una patología de baja prevalencia (1-1000000) y no existe evidencia científica que respalde protocolos clínicos de atención a nivel odontológico. Se presenta el caso clínico del paciente NT, portador de esta patología, de alto riesgo con alta actividad de caries, en dentición mixta, a quien se le realizó tratamiento odontológico integral con apoyo del equipo multidisciplinario que trabaja en el Servicio de Hemoterapia del CHPR.
The Transfusional Department at the Pereira Rossell Hospital in MontevideoUruguay is the National Reference Center in the field of the mother-children assistance. The School of Dentistry of the Universidad de la República and the Public Health State Department have an agreement to give assistance together to patients with different blood disorders. Factor XII deficit is a low prevalence pathology (1-1000000) and there is not cientific evidence to support clinical dental management. We present a case report of a patient with factor XII deficit, high risk and high caries activity, mixed dentition, who was integrally treated with the support of the interdisciplinary team of the Hemotherapy Department at CHPR.