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Abstract(s)
A esclerose múltipla é uma doença crónica desmielinizante do sistema nervoso central,
abrangendo assim o cérebro e a medula espinal, que constitui uma das causas mais comuns de incapacidade neurológica em jovens adultos. A etiologia desta doença, predominantemente autoimune, não é completamente compreendida, estando, no entanto, associada a determinados fatores genéticos e ambientais conhecidos como infeções ou défice
de vitamina D. É uma doença que se manifesta tipicamente entre os 20 e os 40 anos,
afetando bastante mais as mulheres. A sua sintomatologia é significativamente variável,
sendo que a doença se manifesta consoante as áreas afetadas pela desmielinização, podendo causar problemas cognitivos, motores e/ou sensitivos, com diferentes padrões de
evolução ao longo do tempo. Pode ser uma condição relativamente benigna em alguns
casos, contudo, em outros pode ser uma doença deveras incapacitante.
O seu diagnóstico é um processo complexo, dada a sintomatologia por vezes discreta e
inespecífica, a heterogeneidade das manifestações clínicas e imagiológicas e a necessidade de integração dos achados dos variados exames com a história clínica. A importância
do aperfeiçoamento deste processo prende-se com a possibilidade de iniciar terapêutica
modificadora de doença o mais precocemente possível e com a mitigação dos erros de diagnóstico, que originam potencialmente morbilidade prolongada e iatrogenia. O objetivo
deste trabalho é precisamente explorar este desafio que é o diagnóstico da esclerose múltipla, desde a clínica aos exames complementares de diagnóstico, analisando o estado da
arte em todas estas vertentes.
Multiple sclerosis is a chronic and demyelinating disease of the central nervous system, affecting thus the brain and the spinal cord. It represents one of the most frequent causes of neurological impairment in young adults. The etiology of this predominantly autoimmune disease is not fully understood, however the disease is known to be associated with genetic and environmental factors like infection or vitamin D deffiency. Multiple sclerosis tipically manifests between 20 and 40 years of age, affecting many more women than men. Its symptomatology is highly variable, depending on which areas are affected by the demyelination process, potentially causing cognitive, motor and/ or sensitive problems, with different evolution patterns along time. It can be a relativelly benign condition in some cases, while in others quite incapacitating. The diagnosis of multiple sclerosis is a complex process, given its sometimes slight and unspecific symptomatology, the heterogeneity of the clinical and imagiological manifestations, and the necessary integration of findings resulting from the various exams with the clinical history. The importance of mastering and improving this process lies on the possibility of initiating disease modifying therapy as soon as possible and the mitigation of misdiagnosis, which could induce prolonged morbidity and iatrogeny. This work is intended to explore this challenging diagnostic process, from the clinic to the paraclinical examinations, looking into the state of the art of these different aspects.
Multiple sclerosis is a chronic and demyelinating disease of the central nervous system, affecting thus the brain and the spinal cord. It represents one of the most frequent causes of neurological impairment in young adults. The etiology of this predominantly autoimmune disease is not fully understood, however the disease is known to be associated with genetic and environmental factors like infection or vitamin D deffiency. Multiple sclerosis tipically manifests between 20 and 40 years of age, affecting many more women than men. Its symptomatology is highly variable, depending on which areas are affected by the demyelination process, potentially causing cognitive, motor and/ or sensitive problems, with different evolution patterns along time. It can be a relativelly benign condition in some cases, while in others quite incapacitating. The diagnosis of multiple sclerosis is a complex process, given its sometimes slight and unspecific symptomatology, the heterogeneity of the clinical and imagiological manifestations, and the necessary integration of findings resulting from the various exams with the clinical history. The importance of mastering and improving this process lies on the possibility of initiating disease modifying therapy as soon as possible and the mitigation of misdiagnosis, which could induce prolonged morbidity and iatrogeny. This work is intended to explore this challenging diagnostic process, from the clinic to the paraclinical examinations, looking into the state of the art of these different aspects.
Description
Keywords
Diagnóstico Esclerose Múltipla Liquido Cefalorraquidiano Potenciais Evocados Ressonância Magnética