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      Trombofilias hereditarias Translated title: Hereditary Thrombophilia


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          Las trombofilias hereditarias suponen un grupo de enfermedades que predisponen al desarrollo de enfermedad tromboembólica arterial y venosa, debido a déficit o ganancia de función de factores anticoagulantes o procoagulantes incrementando de manera significativa la morbilidad y mortalidad en la población adulta y pediátrica. La expresión y penetrancia genética de este grupo de enfermedades es diversa, y las formas de presentación clínica varía desde la purpura fulminans neonatal hasta episodios tromboembólicos recurrentes a edades tempranas y efectos adversos en el embarazo. El screening no es rutinario en pacientes con cuadros tromboembólicos y sus indicaciones son precisas, en especial personas menores a los 45 años, con cuadros recurrentes, y abortos o muertes fetales a repetición sin causa específica. El tratamiento es basado de acuerdo a la presentación del cuadro clínico, sin embargo la anticoagulación convencional es ampliamente utilizada en el manejo de este grupo de pacientes.

          Translated abstract

          Inherited thrombophilia represent a group of diseases that predispose to the development of arterial and venous thromboembolic disease due to deficiency or gain of function of anticoagulant or procoagulant factors, increasing significantly the morbidity and mortality in the adult and pediatric population. Expression and genetic penetrance to this group of diseases is diverse, and the form of clinical presentation varies from the neonatal purple fulminans to recurrent thromboembolic events at a young age and pregnancy with side effects. The screening is not routine in patients with thromboembolic condition and its indications are accurate, especially in younger people than 45, with recurrent episodes of abortions or fetal deaths without specific cause. Treatment is based according to the clinical presentation of the condition; however conventional anticoagulation is widely used in the treatment of this patient group.

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          Most cited references33

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          Clinical guidelines for testing for heritable thrombophilia.

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            Protein C and protein S deficiency - practical diagnostic issues.

            Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins, that act as natural anticoagulants. The proteolytic activation of PC by thrombin occurs on the surface of endothelial cells and involves thrombomodulin and endothelial PC receptor. In the presence of PS, phospholipids and calcium, activated PC (APC) inactivates membrane bound factors V (FVa) and FVIIIa by their cleavage at the specific arginine residues. PC and PS deficiencies are inherited as autosomal dominant disorders associated with recurrent venous thromboembolism (VTE) and, in most cases, derived from heterozygous missense mutations (78% and 63%, respectively). Heterozygous PC deficiency is found in 6% of families with inherited thrombophilia, in 3% of patients with a first-time deep vein thrombosis (DVT) and 0.2-0.3% of healthy individuals. The PS deficiency is detected more commonly than PC deficiency and its prevalence has been estimated with a less than 0.5% in the general European population and 2% to 12% of selected groups of thrombophilic patients. Approximately 75% of PC-deficient patients have type I deficiency and 95% of PS-deficient patients develop type I and type III of PS deficiency. The diagnosis of PC and PS deficiencies is challenging, many preanalytical and analytical factors may affect the PC/PS levels. Molecular analysis of the PC and PS genes (PROC and PROS1, respectively) involves direct gene sequencing and if negative, multiplex ligation-dependent probe amplification (MLPA) method. Patients with low PC and PS levels and the known mutation within PROC or PROS1 genes combined with other genetic or environmental thrombosis factors are at increased risk of recurrent thromboembolic events and require lifelong oral anticoagulation.
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              Deficiencies of natural anticoagulants, protein C, protein S, and antithrombin.


                Author and article information

                Role: ND
                Revista Científica Ciencia Médica
                Rev Cient Cienc Méd
                Facultad de Medicina, Universidad Mayor de San Simón. (Cochabamba, Cochabamba, Bolivia )
                : 18
                : 1
                : 43-49
                [01] orgnameUniversidad Central del Ecuador orgdiv1Centro de Biomedicina Ecuador carlosdnoronac@ 123456gmail.com

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                : 30 August 2014
                : 15 January 2015
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 25, Pages: 7

                SciELO Bolivia

                Factor V Leiden,Trombofilia,Déficit de Proteína C,Tromboembolismo Venoso,Anticoagulante,Thrombophilia,Protein C Deficiency,Venous Thromboembolism,Anticoagulant


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