Abstract

NORONA CALVACHI, Carlos Danilo. Hereditary Thrombophilia. Rev Cient Cienc Méd [online]. 2015, vol.18, n.1, pp.43-49. ISSN 2077-3323.

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.

Keywords : Thrombophilia; Factor V Leiden; Protein C Deficiency; Venous Thromboembolism; Anticoagulant.

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