Evaluation of the relationship between thrombophilia gene mutations and demographic data, imaging findings and stroke subtypes in young patients followed up with a diagnosis of stroke
Authors: Uçaroğlu Can Nimet , Boncuk Ulaş Sena , Güzey Aras Yeşim 
Published: November 2024

Aims: A stroke is defined as a focal or generalized neurological deficit that develops suddenly, lasts for more than 24 hours, or ends in death within this period, with a cause other than a vascular cause. Stroke is among the leading causes of morbidity and mortality in the general population. In our study, we examined the prevalence of all prothrombotic gene mutations observed in patients with and without predisposing risk factors for young patients with stroke and discussed their roles in stroke formation in the context of existing literature.
Methods: In the present study, we conducted a retrospective review of the medical records of 300 patients aged 18 to 49 years who were hospitalized in the neurology clinic of our hospital between June 2023 and June 2024 and diagnosed with acute arterial ischemic stroke based on anamnesis, neurological examination, and radiological imaging (CT and MRI) results. The study cohort comprised 47 patients (23 males, 24 females) aged between 18 and 49 years with a diagnosis of ischemic stroke. In our study, we examined ischemic stroke-related gene polymorphisms in patients with early-onset ischemic stroke (before the age of 50 years). This study aims to investigate the prevalence of Factor V-Leiden, prothrombin-G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, SERPIN 1, and Factor II polymorphisms in young patients with ischemic stroke.
Results: A total of 47 patients, comprising 23 males and 24 females, were included in the study. The mean age of the patients was 40.34 ± 6.37 years. According to the TOAST classification system, 17 patients (36.2%) were diagnosed with large artery atherothrombosis, one patient (2.1%) had a cardioembolic infarction, and 29 patients (61.7%) had a small artery occlusion. In our study, when evaluating the thrombophilia mutation subtypes in young ischemic stroke patients, 23.4% (n=11) of the patients were found to be heterozygous for the FVL mutation, while 76.6% (n=36) had no mutation. Concerning the SERPIN 1 mutation, 40.4% (n=19) of the patients were heterozygous, 23.4% (n=11) were homozygous, and 36.2% (n=17) exhibited no mutation. The distribution of patients according to MTHFR C677T mutation revealed that 57.4% (n=27) were heterozygous, 19.1% (n=9) were homozygous, and 23.4% (n=11) had no mutation. Considering the distribution of patients according to the MTHFR A1298C gene mutation, a total of 38.3% (n=18) of the patients were heterozygous, 14.9% (n=7) were homozygous, and 46.9% (n=22) had no mutation. Upon analysis of the distribution of patients according to factor XIII mutation, it was identified that 19.1% (n=9) were heterozygous, 2.1% (n=1) were homozygous, and 78.7% (n=37) of the patients exhibited no mutation. Upon analysis of the distribution of patients according to prothrombin (Factor II) mutation, it was identified that 8.5% (n=4) were heterozygous, while 91.5% (n=43) exhibited no mutation.
Conclusion: Although stroke is less prevalent in young adults, the underlying etiology is highly varied. Further research, including the investigation of genetic and prothrombotic mutations, is vital for the prevention of recurrent strokes in young adults.