Multiple Thromboembolic Events in Young Patient with Homozygous T-786C Mutation in the Endothelial Nitric Oxide Synthase Gene (ENOS).
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
; 45(2): 25-30, 2024 Jun 01.
Article
em En
| MEDLINE
| ID: mdl-39008646
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tromboembolia
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Predisposição Genética para Doença
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Óxido Nítrico Sintase Tipo III
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Mutação
Limite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Pril (Makedon Akad Nauk Umet Odd Med Nauki)
Ano de publicação:
2024
Tipo de documento:
Article