MULTIPLE THROMBOSIS IN A PATIENT WITH FACTOR V LEIDEN MUTATION

Abstract

Factor V Leiden is a mutant variation of human Factor V - a protein in the blood that plays a role in the coagulation. Factor V Leiden mutation is the cause of the most common type of hereditary thrombophilia. Heterozygous carriership occurs in 3-8% of Europeans, who carry one copy of the defective gene and one in 5,000 carry two copies and are homozygous. Factor V Leiden is a genetic condition in which not all carriers of the mutation develop symptoms, but there is an increased risk of thrombotic events. People with factor V Leiden are at high risk of developing:

• deep vein thrombosis (DVT)
• pulmonary embolism
• complications during pregnancy - Factor V Leiden is associated with an increased risk of miscarriage and other pregnancy complications such as high blood pressure (preeclampsia) and placental abruption.

We report a case from the clinical practice of a young man with multiple thrombosis, with unusual for the hereditary thrombophilia locations and we present the results of the performed surgical treatment of the intracardiac thrombotic masses, which pose high risk for systemic embolism. The diagnosis of thrombophilia was confirmed by a DNA analysis which established a homozygous state of the mutation c.1601 G> A (p.Arg534Gln) in the FV gene (Factor 5), also called the FV Leiden variant.

The association of this mutation with venous thrombosis has been studied well, but there are conflicting opinions about its connection with arterial and intracardiac thrombosis.