Genetic risk factors of thrombofilia in a young ischemic stroke patient (clinical case report)

Stroke is a multifactorial disease. The stroke pathogenesis is caused by a combination of several risk factors. A determination of the genetic predisposition to stroke is especially important for young patients. Understanding the stroke development mechanisms is extremely useful for adequate treatment and secondary prevention of the disease. We present the case report of ischemic stroke in the young patient with basilar artery thrombosis and severe neurological symptoms. Diagnostics included the clinical, neurological, neuroimaging, ultrasound, immunological, molecular-genetic examination. Genotyping of polymorphisms of hemostasis system’s genes FV, FII, FVII, FXIII, FGB, ITGA2, ITGB3, PAI-I was conducted. It was found the carrying of the three polymorphisms associated with the thrombosis and ischemic stroke risk: genotype GA polymorphism - 455 G> A gene FGB, genotype CT polymorphism 807 C> T ITGA2 gene, 4G / 4G genotype of polymorphisms 5G> 4G gene PAI-I. Thrombophilia due to the carrying of these genetic variants in combination with an antiphospholipid syndrome, altered immune status, were predisposition factors of vertebro-basilar’s system ischemic stroke in the young patient.

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