Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323 |
Resumo: | Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical manifestations include a nonspecific set of gastrointestinal, neuropsychiatric, and/or cutaneous symptoms. Effective diagnostic methods are widely available, but due to their clinical heterogeneity and non-specificity, many years often elapse from symptom onset to diagnosis of acute porphyrias, delaying the treatment and increasing morbidity. Therefore, increased awareness of acute porphyrias among healthcare professionals is paramount to reducing disease burden. Treatment of acute porphyrias is centered on eliminating the potential precipitants, symptomatic treatment, and suppressing the hepatic heme pathway, through the administration of hemin or givosiran. Moreover, properly monitoring patients with acute porphyrias and their relatives is fundamental to preventing acute attacks, hospitalization, and long-term complications. Considering this, a multidisciplinary panel elaborated a consensus paper, aiming to provide guidance for an efficient and timely diagnosis of acute porphyrias, and evidence-based recommendations for treating and monitoring patients and their families in Portugal. To this end, all authors exhaustively reviewed and discussed the current scientific evidence on acute porphyrias available in the literature, between November 2022 and May 2023. |
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Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient ReferralConsenso Português de Porfirias Agudas: Diagnóstico, Tratamento, Monitorização e ReferenciaçãoConsensusPorphyria, Acute Intermittent/diagnosisPorphyria, Acute Intermittent/therapyPorphyrias/diagnosisPorphyrias/therapyPortugalReferral and ConsultationConsensoEncaminhamento e ConsultaPorfirias/diagnósticoPorfirias/tratamentoPorfiria Aguda Intermitente/diagnósticoPorfiria Aguda Intermitente/tratamentoPortugalAcute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical manifestations include a nonspecific set of gastrointestinal, neuropsychiatric, and/or cutaneous symptoms. Effective diagnostic methods are widely available, but due to their clinical heterogeneity and non-specificity, many years often elapse from symptom onset to diagnosis of acute porphyrias, delaying the treatment and increasing morbidity. Therefore, increased awareness of acute porphyrias among healthcare professionals is paramount to reducing disease burden. Treatment of acute porphyrias is centered on eliminating the potential precipitants, symptomatic treatment, and suppressing the hepatic heme pathway, through the administration of hemin or givosiran. Moreover, properly monitoring patients with acute porphyrias and their relatives is fundamental to preventing acute attacks, hospitalization, and long-term complications. Considering this, a multidisciplinary panel elaborated a consensus paper, aiming to provide guidance for an efficient and timely diagnosis of acute porphyrias, and evidence-based recommendations for treating and monitoring patients and their families in Portugal. To this end, all authors exhaustively reviewed and discussed the current scientific evidence on acute porphyrias available in the literature, between November 2022 and May 2023.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.Ordem dos Médicos2023-11-02info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323Acta Médica Portuguesa; Vol. 36 No. 11 (2023): November; 753-764Acta Médica Portuguesa; Vol. 36 N.º 11 (2023): Novembro; 753-7641646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPengporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323/15249https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323/15250Direitos de Autor (c) 2023 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessBrito Avô, LuísPereira, LuísaOliveira, AnabelaFerreira, FilipaFilipe, PauloCoelho Rodrigues, InêsCouto, EduardaFerreira, FátimaAirosa Pardal, AndréMorgado, PedroMoreira, Sónia2023-11-05T03:00:36Zoai:ojs.www.actamedicaportuguesa.com:article/20323Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:26:48.846927Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral Consenso Português de Porfirias Agudas: Diagnóstico, Tratamento, Monitorização e Referenciação |
title |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral |
spellingShingle |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral Brito Avô, Luís Consensus Porphyria, Acute Intermittent/diagnosis Porphyria, Acute Intermittent/therapy Porphyrias/diagnosis Porphyrias/therapy Portugal Referral and Consultation Consenso Encaminhamento e Consulta Porfirias/diagnóstico Porfirias/tratamento Porfiria Aguda Intermitente/diagnóstico Porfiria Aguda Intermitente/tratamento Portugal |
title_short |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral |
title_full |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral |
title_fullStr |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral |
title_full_unstemmed |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral |
title_sort |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral |
author |
Brito Avô, Luís |
author_facet |
Brito Avô, Luís Pereira, Luísa Oliveira, Anabela Ferreira, Filipa Filipe, Paulo Coelho Rodrigues, Inês Couto, Eduarda Ferreira, Fátima Airosa Pardal, André Morgado, Pedro Moreira, Sónia |
author_role |
author |
author2 |
Pereira, Luísa Oliveira, Anabela Ferreira, Filipa Filipe, Paulo Coelho Rodrigues, Inês Couto, Eduarda Ferreira, Fátima Airosa Pardal, André Morgado, Pedro Moreira, Sónia |
author2_role |
author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Brito Avô, Luís Pereira, Luísa Oliveira, Anabela Ferreira, Filipa Filipe, Paulo Coelho Rodrigues, Inês Couto, Eduarda Ferreira, Fátima Airosa Pardal, André Morgado, Pedro Moreira, Sónia |
dc.subject.por.fl_str_mv |
Consensus Porphyria, Acute Intermittent/diagnosis Porphyria, Acute Intermittent/therapy Porphyrias/diagnosis Porphyrias/therapy Portugal Referral and Consultation Consenso Encaminhamento e Consulta Porfirias/diagnóstico Porfirias/tratamento Porfiria Aguda Intermitente/diagnóstico Porfiria Aguda Intermitente/tratamento Portugal |
topic |
Consensus Porphyria, Acute Intermittent/diagnosis Porphyria, Acute Intermittent/therapy Porphyrias/diagnosis Porphyrias/therapy Portugal Referral and Consultation Consenso Encaminhamento e Consulta Porfirias/diagnóstico Porfirias/tratamento Porfiria Aguda Intermitente/diagnóstico Porfiria Aguda Intermitente/tratamento Portugal |
description |
Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical manifestations include a nonspecific set of gastrointestinal, neuropsychiatric, and/or cutaneous symptoms. Effective diagnostic methods are widely available, but due to their clinical heterogeneity and non-specificity, many years often elapse from symptom onset to diagnosis of acute porphyrias, delaying the treatment and increasing morbidity. Therefore, increased awareness of acute porphyrias among healthcare professionals is paramount to reducing disease burden. Treatment of acute porphyrias is centered on eliminating the potential precipitants, symptomatic treatment, and suppressing the hepatic heme pathway, through the administration of hemin or givosiran. Moreover, properly monitoring patients with acute porphyrias and their relatives is fundamental to preventing acute attacks, hospitalization, and long-term complications. Considering this, a multidisciplinary panel elaborated a consensus paper, aiming to provide guidance for an efficient and timely diagnosis of acute porphyrias, and evidence-based recommendations for treating and monitoring patients and their families in Portugal. To this end, all authors exhaustively reviewed and discussed the current scientific evidence on acute porphyrias available in the literature, between November 2022 and May 2023. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-11-02 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323 |
dc.language.iso.fl_str_mv |
eng por |
language |
eng por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323/15249 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20323/15250 |
dc.rights.driver.fl_str_mv |
Direitos de Autor (c) 2023 Acta Médica Portuguesa info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Direitos de Autor (c) 2023 Acta Médica Portuguesa |
eu_rights_str_mv |
openAccess |
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application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 36 No. 11 (2023): November; 753-764 Acta Médica Portuguesa; Vol. 36 N.º 11 (2023): Novembro; 753-764 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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