Estudo da frequência e das características do Acidente Vascular Cerebral Isquêmico (AVCI) em jovens, com e sem redução da atividade enzimática da α - galactosidase A, de um hospital de referência de Belo Horizonte, Brasil

• Ano de defesa: 2019
• Autor(a) principal: Daiane Magalhaes
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Minas Gerais; Brasil; ICB - INSTITUTO DE CIÊNCIAS BIOLOGICAS; Programa de Pós-Graduação em Neurociências; UFMG
• Palavras-chave em Português: acidente vascular cerebral; acidente vascular cerebral isquêmico; doença de Fabry; enzima α- galactosidase A; Neurociência; Acidente Vascular Cerebral; Isquemia; Doença de Fabry; alfa- Galactosidase
• Link de acesso: http://hdl.handle.net/1843/33629

Introduction: Fabry disease (FD) is an important cause of cerebrovascular disease in young people (<55 years), accounting for about 1 to 4% of the cryptogenic strokes detected in this age group. Objectives: The general objective of the study is to define the frequency and clinical characteristics of patients with enzymatic reduction of α-galactosidase A in patients between 18 and 55 years admitted with ischemic stroke, in a stroke center in Belo Horizonte, Brazil. Methods: The study was developed at Risoleta Tolentino Neves Hospital, located in Belo Horizonte, state of Minas Gerais, Brazil, between March and September 2018. It comprises a cross-sectional, observational study in which patients admitted to the neurology service of the mentioned hospital with a diagnosis of ischemic stroke and age between 18 and 55 years were selected. These patients were submitted to the measurement of α-galactosidase A activity, with the targeting of the patients who presented the activity of this reduced enzyme to the genetic test. Patients were also evaluated for demographic characteristics, neurological examination, etiological classification of stroke and diagnostic tests. Results: During the study period, 342 patients were admitted to the Risoleta Tolentino Neves Hospital with a diagnosis of stroke. Of this total, 74 young patients affected by stroke were included in the study. Of these, eleven showed reduced activity of the enzyme α-galactosidase A, and ten some genetic polymorphism not typical of FD. Among the risk factors for stroke identified in this population, the following were prevalent: sedentary lifestyle (85.1%), elevated blood pressure (60.8%), alcoholism (39.2%) and smoking (39.2%). On echocardiogram, the mean left ventricular ejection fraction was 59.7% (SD ± 14.91), with a tendency to be lower in the population with reduced activity of the enzyme α-galactosidase A (p = 0.054). The group with reduced enzyme activity also had a higher incidence of ventricular segment hypokinesia (p = 0.032, RR 1.50, CI 0.90 to 2.50). Conclusion: Risk factors related to the occurrence of stroke in young adults were similar to those described in the elderly population. The frequency of α-galactosidase A gene polymorphisms has been high, and although no known pathogen mutation has been found, there is a reduction in enzyme activity and worse neurological outcomes in some patients.