PAGET – SCHROETTER SYNDROME IN A FOOTBALL PLAYER: GENETIC AND ENVIRONMENTAL RISK FACTORS
Abstract
Aim. This paper aims to investigate the genetic predisposition factors of axillary-subclavian venous occlusion. Materials and methods: the diagnosis was confirmed via Doppler ultrasonography. The study investigated polymorphisms in coagulation factor genes using pyrosequencing with commercially available panels. Results. Right axillary-subclavian venous occlusion was associated with point mutations in coagulation factor VII (F7, rs6046), plasminogen activator inhibitor (SERPINE1, rs1799768), and the gene encoding platelet glycoprotein 1b (GP1BA, rs6065). These genetic variants were linked to increased factor production and enhanced platelet adhesion rates, which, combined with climatic conditions, contributed to thrombotic development. Conclusion. Early detection of such predispositions may reduce the risk of severe complications, including pulmonary artery or pericardial vessel thromboembolism.
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