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Porphyrias: A clinically based approach

  • Joana Rigor
    Correspondence
    Corresponding author.
    Affiliations
    Internal Medicine Department, Vila Nova de Gaia/Espinho Hospital Center, E.P.E., Rua Conceição Fernandes, s/n, 4434-502 Vila Nova de Gaia, Portugal
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  • Sara Almeida Pinto
    Affiliations
    Internal Medicine Department, Vila Nova de Gaia/Espinho Hospital Center, E.P.E., Rua Conceição Fernandes, s/n, 4434-502 Vila Nova de Gaia, Portugal
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  • Daniela Martins-Mendes
    Affiliations
    Internal Medicine Department, Vila Nova de Gaia/Espinho Hospital Center, E.P.E., Rua Conceição Fernandes, s/n, 4434-502 Vila Nova de Gaia, Portugal

    Biomedicine Department, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

    i3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal, R. Alfredo Allen, 4200-135 Porto, Portugal
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      Highlights

      • Porphyrias are a group of 8 metabolic diseases of the heme synthesis pathway.
      • Clinically, they are divided in neurovisceral, cutaneous bullous and non-bullous.
      • Each porphyria has its own pattern of porphyrin excretion, allowing easy diagnosis.
      • Treatment relies on patient education, trigger removal and support therapy.
      • As rare diseases, physician awareness is vital to timely and adequate management.

      Abstract

      Background

      Porphyrias are a group of metabolic diseases, individually rare but with an important combined prevalence. Because of their pathological complexity and clinical heterogeneity, they present a challenging diagnosis. The present review aims to provide a clinically based approach to the recognition and treatment of these disorders.

      Methods

      We carried out a search in PubMed, with the keyword “porphyria”, for reviews published in English from 2010 until 2017.

      Results

      The research yielded 196 papers, of which 64 were included in the final narrative review.

      Conclusions

      Porphyrias can be divided based on clinical presentation in acute neurovisceral, chronic cutaneous bullous, chronic cutaneous non-bullous and acute neurovisceral/chronic cutaneous bullous. Each individual porphyria presents a characteristic pattern of porphyrins in plasma, urine, stool and red blood cells. As such, diagnosis is easily obtained by following a simple diagnostic algorithm. Early recognition is key in managing these diseases. Neurovisceral porphyrias require acute support therapy and chronic eviction of precipitating factors. Cutaneous prophyrias, as photosensitivity disorders, rely on sunlight avoidance and, in some cases, specific therapeutic interventions. Given the rarity of these conditions, physician awareness is crucial.

      Keywords

      Abbreviations:

      ALA (delta-aminolevulinic acid), ALAD (delta-aminolevulinic acid dehydratase), ALAS2 (delta′-aminolevulinate synthase 2), CPOX (coproporphyrinogen oxidase), FECH (ferrochelatase), GATA1 (erythroid transcription factor), HFE (human hemochromatosis), PBG (porphobilinogen), PBGD (porphobilinogen deaminase), PCT (porphyria cutanea tarda), PPOX (protoporphyrinogen oxidase), RBC (red blood cells), UROD (uroporphyrinogen decarboxylase), UROS (uroporphyrinogen III synthase)
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