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Porphyrias: A clinically based approach.

Joana Rigor1, Sara Almeida Pinto1, Daniela Martins-Mendes2

  • 1Internal Medicine Department, Vila Nova de Gaia/Espinho Hospital Center, E.P.E., Rua Conceição Fernandes, s/n, 4434-502 Vila Nova de Gaia, Portugal.

European Journal of Internal Medicine
|July 2, 2019
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Summary
This summary is machine-generated.

Porphyrias are rare metabolic diseases that are challenging to diagnose. This review offers a clinical approach to recognizing and treating porphyrias, emphasizing early diagnosis and physician awareness.

Keywords:
Abdominal painHemeMetabolic diseasesPhotosensitivity disordersPorphyrias

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Area of Science:

  • Metabolic disorders
  • Clinical diagnosis
  • Disease management

Background:

  • Porphyrias are a group of rare metabolic diseases with significant combined prevalence.
  • Their complexity and heterogeneity make diagnosis challenging.
  • A clinically based approach is needed for recognition and treatment.

Purpose of the Study:

  • To provide a clinical approach for recognizing and treating porphyrias.
  • To aid physicians in diagnosing and managing these rare metabolic disorders.

Main Methods:

  • Literature search in PubMed using the keyword "porphyria".
  • Selection of review articles published in English between 2010 and 2017.
  • Inclusion of 64 relevant papers in the final narrative review.

Main Results:

  • Porphyrias are classified into acute neurovisceral and chronic cutaneous types.
  • Characteristic porphyrin patterns in biological samples aid diagnosis.
  • A diagnostic algorithm simplifies disease identification.

Conclusions:

  • Early recognition of porphyrias is crucial for effective management.
  • Treatment strategies vary, including supportive therapy, avoidance of triggers, and sunlight avoidance.
  • Increased physician awareness is vital due to the rarity of these conditions.