Multiple Thromboembolic Events in Young Patient with Homozygous T-786C Mutation in the Endothelial Nitric Oxide Synthase Gene (ENOS)

Multiple Thromboembolic Events in Young Patient with Homozygous T-786C Mutation in the Endothelial Nitric Oxide Synthase Gene (ENOS)

Thromboembolic events are a common cause of morbidity and mortality with significant socioeconomic impact especially when young patients are affected. They are a rare medical event in young people and their clinical presentation can be mild or asymptomatic. The manifestation of symptoms and thrombot...

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Bibliographic Details
Published in:Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) Vol. 45; no. 2; p. 25
Main Authors: Amzai, Gazmend, Mena, Krenar, Fazliu, Zekije, Apostoloski, Branko, Nechofski, Stojnela, Dervishoski, Alil, Muca, Argjent, Karanfilski, Oliver
Format: Journal Article
Language:English
Published: North Macedonia 01-06-2024
Subjects:
Adult
Female
Genetic Predisposition to Disease
Homozygote
Humans
Mutation
Myocardial Infarction - genetics
Nitric Oxide Synthase Type III - genetics
Phenotype
Risk Factors
Smoking - adverse effects
Thromboembolism - genetics
cigarette smoking
thrombophilia
myocardial infarction
cerebrovascular insult
eNOS 786 T>C mutation
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Summary:Thromboembolic events are a common cause of morbidity and mortality with significant socioeconomic impact especially when young patients are affected. They are a rare medical event in young people and their clinical presentation can be mild or asymptomatic. The manifestation of symptoms and thrombotic events depends on both: the genetic mutations and the external risk factors that will induce the process. We present a case of a 34-year old young female, with three consecutive cerebrovascular insults in a period of ten years, and an acute myocardial infarction. There is a combination of gene mutations and polymorphism, with a predisposition to thromboembolic events. We emphasized the role of e-NOS (Endothelial nitric oxide synthase 786 T>C mutation) and the connection with smoking. The dual effect of the prolonged smoking and dysfunctional nitric oxide synthase in our young patient led to several thrombotic events. We discussed the various diagnostic tests and possible therapeutic and prophylactic strategies.
ISSN:1857-8985