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Authors
Advisor(s)
Abstract(s)
A narcolepsia é um distúrbio neurológico, que se caracteriza por uma hipersonolência
diurna, associada a um conjunto de outros sintomas. Esta patologia pode cursar com
episódios de perda de força muscular súbita sem perda de consciência (cataplexia),
alucinações hipnagógicas e/ou hipnopômpicas, e paralisia do sono.
Esta doença, apesar de relativamente rara, traz um impacto significativo na qualidade de
vida, seja a nível individual, como social e profissional. Esta dissertação tem como intuito
a disseminação de conhecimentos, assim como a consciencialização dos profissionais de
saúde, para a existência desta patologia, de forma a promover um diagnóstico mais
precoce e um tratamento mais atempado.
A metodologia baseou-se na pesquisa e análise de artigos científicos utilizando para tal,
bases de dados informáticas, como a Pubmed, a ScienceDirect, a SciELO - Scientific
Electronic Library Online e o GoogleScholar, assim como o recurso a livros e guidelines.
Este trabalho apresenta de uma forma sintetizada os mais recentes avanços científicos na
gestão desta patologia assim como as possíveis abordagens futuras. Atualmente a
terapêutica gira em torno da utilização de fármacos que diminuem a intensidade da
sintomatologia. O oxibato de sódio, o modafinil, o pitolisant, o solriamfetol, a venlafaxina,
a clomipramina, o metilfenidato e os derivados das anfetaminas são opções terapêuticas
válidas e que devem ser consideradas tendo em conta o individuo e os seus sintomas
predominantes. Neste momento, estão em estudo novas substâncias que podem vir a
impactar significativamente o panorama terapêutico. As perspetivas futuras apontam para
a possibilidade do aparecimento de novas classes farmacológicas capazes de atuar na base
fisiopatológica da doença, alterando a sua progressão natural.
Narcolepsy is a neurological disorder characterized by daytime hypersomnolence associated with a set of other symptoms. This pathology may present with episodes of sudden loss of muscle strength without loss of consciousness (cataplexy), hypnagogic and/or hypnopompic hallucinations, and sleep paralysis. This disease, although relatively rare, has a significant impact on quality of life, both individually, socially and professionally. This dissertation aims to disseminate knowledge, as well as raise awareness among health professionals about the existence of this pathology, in order to promote an earlier diagnosis and more timely treatment. The methodology was based on the search and analysis of scientific articles using computer databases, such as Pubmed, ScienceDirect, SciELO - Scientific Electronic Library Online and GoogleScholar, as well as the use of books and guidelines. This work succinctly presents the latest scientific advancements in the management of this pathology, along with potential future approaches. Presently, the therapeutic strategy revolves around the utilization of medications aimed at mitigating symptom intensity. Sodium oxybate, modafinil, pitolisant, solriamfetol, venlafaxine, clomipramine, methylphenidate, and amphetamine derivatives stand as viable therapeutic options, with due consideration to individual variations and predominant symptoms. Currently, novel substances are under investigation, holding promise for a substantial impact on the therapeutic landscape. Prospective developments suggest the potential emergence of new pharmacological classes capable of intervening in the pathophysiological foundation of the disease, thereby altering its natural progression.
Narcolepsy is a neurological disorder characterized by daytime hypersomnolence associated with a set of other symptoms. This pathology may present with episodes of sudden loss of muscle strength without loss of consciousness (cataplexy), hypnagogic and/or hypnopompic hallucinations, and sleep paralysis. This disease, although relatively rare, has a significant impact on quality of life, both individually, socially and professionally. This dissertation aims to disseminate knowledge, as well as raise awareness among health professionals about the existence of this pathology, in order to promote an earlier diagnosis and more timely treatment. The methodology was based on the search and analysis of scientific articles using computer databases, such as Pubmed, ScienceDirect, SciELO - Scientific Electronic Library Online and GoogleScholar, as well as the use of books and guidelines. This work succinctly presents the latest scientific advancements in the management of this pathology, along with potential future approaches. Presently, the therapeutic strategy revolves around the utilization of medications aimed at mitigating symptom intensity. Sodium oxybate, modafinil, pitolisant, solriamfetol, venlafaxine, clomipramine, methylphenidate, and amphetamine derivatives stand as viable therapeutic options, with due consideration to individual variations and predominant symptoms. Currently, novel substances are under investigation, holding promise for a substantial impact on the therapeutic landscape. Prospective developments suggest the potential emergence of new pharmacological classes capable of intervening in the pathophysiological foundation of the disease, thereby altering its natural progression.
Description
Keywords
Cataplexia Comorbidades da Narcolepsia Diagnóstico de Narcolepsia Distúrbios do Sono Etiologia da Narcolepsia Fisiopatologia da Narcolepsia Hipocretina Narcolepsia Narcolepsia Tipo 1 Narcolepsia Tipo 2 Orexina Sonolência Diurna Excessiva Tratamento da Narcolepsia