BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history ...

Purpose: We aimed in this study to examine the presence and frequency of genetic polymorphisms in individuals less than 55 years of age with significant peripheral arterial disease in the femoropopliteal arterial system and to report on their association with the disease. Material and methods: This cross-sectional study undertaken between 2013 and 2014 included a total of 32 peripheral arterial...

Abstract STUDY QUESTION Is there an association between hereditary thrombophilia in pregnant women and risk of recurrent pregnancy loss (RPL)? SUMMARY ANSWER Pregnant with have increased RPL, especially for the G1691A mutation factor V Leiden (FVL) gene, G20210A prothrombin gene (PGM), deficiency protein S (PS). WHAT IS KNOWN ALREADY Prior studies suggested that a higher however, results are in...

Levels of free activated protein C are a measure of the activation of the protein C pathway in vivo. The aim of this study was to establish if the protein C pathway is triggered in familial thrombophilia and if activated protein C levels correlate with type of defect or symptoms. We measured activated protein C in 133 patients with a deficiency of antithrombin (n = 31), protein C (n = 24) or pr...

BACKGROUND Predisposition to venous thrombosis may be assessed through testing for defects and/or deficiencies of a number of hereditary factors. There is potential for confusion about which of these tests are appropriate in which settings. At least one set of recommendations has been published to guide such testing, but it is unclear how widely these have been disseminated. METHODS We perfor...

Sticky platelet syndrome has been described as a hereditary thrombophilic condition. The aim of this study is to identify the presence of platelet hyperaggregability in patients who have experienced thrombosis. Light-transmittance platelet aggregometry was used to assess for spontaneous platelet aggregation, aggregation in response to full and low-dose (LD) epinephrine (Epi) and adenosine dipho...