A clinical case of ischemic stroke in a young patient with thrombophilia

A clinical observation is presented of a young patient with a rare form of homozygous mutation, which caused recurrent pulmonary embolism, ischemic stroke in the left middle cerebral artery basin. To determine the etiology of recurrent thrombosis, instrumental diagnostic methods were performed to exclude dissection of extra- and intracranial arteries, heart diseases, as well as laboratory methods to detect thrombophilia, antiphospholipid syndrome, connective tissue diseases, and the blood system. According to the results of the examination, the patient revealed a homozygous mutation of the plasminogen activator inhibitor PAI-1, which, in the absence of other factors, can be considered as a probable cause of recurrent thrombosis. During treatment, the patient’s condition improved, focal neurological symptoms partially regressed. As a secondary prophylaxis, the patient was prescribed lifelong administration of warfarin under the control of INR.