Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral

Luís Brito Avô; Luísa Pereira; Anabela Oliveira; Filipa Ferreira; Paulo Filipe; Inês  Coelho Rodrigues; Eduarda Couto; Fátima Ferreira; André Airosa Pardal; Pedro Morgado; Sónia  Moreira

doi:10.20344/amp.20323

Authors

Luís Brito Avô Serviço de Medicina Interna. Hospital CUF Tejo. Lisboa; Unidade de Doenças Raras. Hospital CUF Tejo. Lisboa; Nucleo de Estudos de Doenças Raras da Sociedade Portuguesa de Medicina Interna. Lisboa. https://orcid.org/0009-0006-5534-6553
Luísa Pereira Nucleo de Estudos de Doenças Raras da Sociedade Portuguesa de Medicina Interna. Lisboa; Unidade de Cuidados Paliativos. Hospital CUF Tejo. Lisboa. https://orcid.org/0000-0002-2894-0972
Anabela Oliveira Serviço de Medicina I. Centro de Referência de Doenças Hereditárias do Metabolismo. Centro Hospitalar Universitário Lisboa Norte. Lisboa. https://orcid.org/0000-0002-0423-8900
Filipa Ferreira Unidade de Rastreio Neonatal, Metabolismo e Genética. Departamento de Genética Humana. Instituto Nacional de Saúde Doutor Ricardo Jorge. Porto. https://orcid.org/0000-0001-7904-5508
Paulo Filipe Unidade de Investigação de Dermatologia. Instituto de Medicina Molecular João Lobo Antunes. Lisboa. https://orcid.org/0000-0001-6917-527X
Inês Coelho Rodrigues Serviço de Gastrenterologia. Centro Hospitalar e Universitário de Lisboa Norte. Lisboa. https://orcid.org/0000-0002-7855-501X
Eduarda Couto Departamento de Medicina Interna. Serviço de Hematologia Clínica. Centro Hospitalar Póvoa de Varzim - Vila do Conde. Póvoa de Varzim. https://orcid.org/0000-0003-2092-0325
Fátima Ferreira Serviço de Hematologia Clínica. Centro Hospitalar e Universitário de São João. Porto. https://orcid.org/0000-0003-2984-8446
André Airosa Pardal Serviço de Hematologia Clínica. Centro Hospitalar Universitário de São João. Porto. https://orcid.org/0009-0003-7016-1643
Pedro Morgado Instituto de Investigação em Ciências da Vida e Saúde. Escola de Medicina. Universidade do Minho. Braga; Laboratório Associado do Governo Português ICVS/3B’s. Braga/Guimarães; Serviço de Psiquiatria. Hospital de Braga. Braga. https://orcid.org/0000-0003-3880-3258
Sónia Moreira Nucleo de Estudos de Doenças Raras da Sociedade Portuguesa de Medicina Interna. Lisboa; Serviço de Medicina Interna. Centro de Referência de Doenças Hereditárias do Metabolismo. Centro Hospitalar e Universitário de Coimbra. Coimbra; Faculdade de Medicina. Universidade de Coimbra. Coimbra. https://orcid.org/0000-0003-3363-0589

DOI:

https://doi.org/10.20344/amp.20323

Keywords:

Consensus, Porphyria, Acute Intermittent/diagnosis, Porphyria, Acute Intermittent/therapy, Porphyrias/diagnosis, Porphyrias/therapy, Portugal, Referral and Consultation

Abstract

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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