Consenso Português de Porfirias Agudas: Diagnóstico, Tratamento, Monitorização e Referenciação
DOI:
https://doi.org/10.20344/amp.20323Palavras-chave:
Consenso, Encaminhamento e Consulta, Porfirias/diagnóstico, Porfirias/tratamento, Porfiria Aguda Intermitente/diagnóstico, Porfiria Aguda Intermitente/tratamento, PortugalResumo
As porfirias agudas são um grupo de doenças metabólicas raras, causadas pela deficiência numa das enzimas envolvidas na biossíntese do heme, originando uma elevada e anormal acumulação de intermediários tóxicos. As porfirias agudas são caracterizadas por crises potencialmente fatais e, em alguns doentes, por manifestações crónicas que têm um impacto negativo no funcionamento diário e na qualidade de vida. As manifestações clínicas incluem um amplo espetro de sintomas gastrointestinais, neuropsiquiátricos e/ou dermatológicos. Existem métodos de diagnóstico eficazes amplamente disponíveis, mas devido à heterogeneidade e inespecificidade das manifestações clínicas, muitas vezes decorrem vários anos desde o início dos sintomas até ao diagnóstico das porfirias agudas, atrasando o tratamento e aumentando a morbilidade. Assim, o aumento da consciencialização para as porfirias agudas entre os profissionais de saúde é considerado fundamental para reduzir o impacto da doença. O tratamento centra-se na eliminação dos potenciais precipitantes, tratamento sintomático e supressão da via hepática de síntese do heme, através da administração de hemina ou givosiran.
Além disso, a monitorização adequada dos doentes com porfirias agudas e dos seus familiares é crucial para prevenir crises agudas, hospitalização e complicações a longo prazo. Considerando isto, um painel multidisciplinar elaborou um consenso nacional, com o objetivo de fornecer orientações para o diagnóstico rápido e eficiente das porfirias agudas, assim como recomendações, baseadas em evidência científica, para o tratamento e monitorização de doentes com estas patologias e as suas famílias, em Portugal. Para tal, a evidência científica atual sobre porfirias agudas disponível na literatura foi exaustivamente revista e discutida por todos os autores entre novembro de 2022 e maio de 2023.
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