Association of G20210A Prothrombin Gene Mutation and Cerebral Ischemic Stroke in Young Patients.

Sujan Poudel,Sai Dheeraj Gutlapalli,Mehwish Zeb,Olusegun T Sodiya,Ijeoma A Toulassi,Varshitha Kondapaneni,Jinal Choudhari,Ivan Cancarevic

doi:10.7759/cureus.11984

Abstract

Ischemic stroke is an acute episode of neurological dysfunction resulting from the focal brain and spinal cord infarction. Many etiologies have been reported and vary significantly with the age of the patients. This study aims to show the association of G20210A prothrombin gene mutation and cerebral ischemic stroke in young patients. The prothrombin gene mutation is the second most common inherited thrombophilia after the factor V mutation. In this single missense mutation, guanine is substituted by adenine base pair in the nucleotide position 20210 of the 3'-untranslated region of the prothrombin gene, resulting in abnormal thrombin production predisposing to both arterial or venous thrombosis. Forty-seven relevant articles were selected after a thorough screening process using a regular keyword ‘G20210A Prothrombin’ and/or ‘Ischemic Stroke’ mostly from the PubMed database. We included the studies that are published in the last 22 years with patients age ≤57 years. This review article depicts the association of G20210A prothrombin gene mutation with ischemic stroke in young patients irrespective of ethnicity and zygosity status of their genotype. However, more multicenter prospective studies are needed to better understand the application of prothrombin gene mutation in predicting the associated risk of ischemic stroke in young patients and its importance in deciding the patients' treatment or prognosis.

Highlights

BackgroundThe disease burden of stroke has increased significantly over the last three decades, and it is the second most common cause of death and disability worldwide [1]
Seventy-two patients (35 male and 37 female) were diagnosed with ischemic stroke, and without any risk factors, 198 thrombosis-free individuals were in the control group
The odds ratio for ischemic stroke associated with the carriership of the mutant factor II allele was 5.1

Summary

Introduction

The disease burden of stroke has increased significantly over the last three decades, and it is the second most common cause of death and disability worldwide [1]. Stroke refers to as a sudden onset of focal neurological deficit attributable to a cause that is vascular in origin [2,3]. It is broadly classified as an ischemic or hemorrhagic stroke. Ischemic stroke is the most common subtype, accounting for 85% of all stroke cases [4]. If we look at the United States Centers for Disease Control and Prevention (CDC) data, one in every six deaths from cardiovascular disease was due to stroke; every year, 795,000 people will encounter a stroke and one will occur every 40 seconds [4]

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