Work

CNS and retinal radiologic findings of a young patient with heterozygous prothrombin G20210A gene mutation

Year: 2025

Type: article

Abstract: Stroke is one of the leading causes of death and acquired long-term disability in the world.1 In United States stroke is the 5th leading cause of death with a mortality rate of 49.1 deaths per 100,000 people.2 Strokes can be ischemic or hemorrhagic in origin, of which 85% are ischemic strokes. Approximately 10--15% of ischemic strokes occur in patients 18-50 years of age, and inherited thrombophilia may be a contributing factor through induction of a hypercoagulable state. Prothrombin G20210A mutation has an overall prevalence of approximately 2% of the general population, with an association between young patients having prothrombin G20210A mutation and cerebral ischemic strokes as well as ocular vascular occlusive events.3 Here, we present a case of a patient with heterozygote prothrombin G20210A mutation and associated cerebral and ocular imaging findings.

Source: Advances in Clinical Medical Research and Healthcare Delivery

DOI: 10.53785/2769-2779.1274

Authors: Justina Kasteri, Timothy Ehmann, Bryan Scott

Institutions: Lake Erie College of Osteopathic Medicine, Unity Health System

Language: English

Topic: Blood Coagulation and Thrombosis Mechanisms

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4413127996

FWCI:

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Related to: 10