Vaskulárna medicína 1/2021

Hemorrhagic-thrombotic complications of patients with congenital hypoproconvertinaemia (FVII defect) – case report

Introduction: Congenital factor VII deficiency (FVII) is the most common of the rare bleeding disorders with an autosomal recessive pattern of inheritance. Clinical manifestations are very variable, whereas no clear association was observed between the severity of bleeding events and residual factor VII activity. Clinical heterogeneity ranges from mild or asymptomatic to severe even lethal forms. A seemingly paradoxical occurrence of increased clotting (thrombosis) in FVII deficiency has also been reported. These thrombosis may be arterial or venous, and may occur spontaneously or in association with treatment. Aim: The article provides an overview of basic information about factor VII deficiency and the presentation of a case report. Case report: A description of the lifelong clinical course of patient with severe factor VII deficiency with numerous hemorrhagic and thrombotic complications. Conclusion: The disease is most often manifested by mild bleeding symptoms, but there are also serious manifestations of the disease, which can be lethal. Patients with hereditary FVII deficiency may develop concomitant severe thrombotic events.

Keywords: congenital factor VII deficiency, bleeding, thrombosis