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Porphyria: often discussed but too often missed
  1. Ronan O’Malley1,2,
  2. Ganesh Rao2,3,
  3. Penelope Stein4,
  4. Oliver Bandmann1,2
  1. 1Department of Neurology, Sheffield Teaching Hospitals (STH), Sheffield, UK
  2. 2Department of Neuroscience, University of Sheffield, Sheffield, UK
  3. 3Department of Neurophysiology, Sheffield Teaching Hospitals (STH), Sheffield, UK
  4. 4Department of Haematological Medicine, Kings College Hospital NHS Foundation Trust, London, UK
  1. Correspondence to Professor Oliver Bandmann, Sheffield Institute for Translational Neuroscience (SITraN), Sheffield S10 2HQ, UK; o.bandmann{at}sheffield.ac.uk

Abstract

The diagnosis of acute intermittent porphyria (AIP) is often overlooked. We describe a patient with this condition who had all the ‘bells and whistles’, in whom the diagnosis was only made after considerable delay. Far from an esoteric condition haunting examination candidates, AIP is an important cause of a broad spectrum of neurological symptoms. Its early recognition allows the astute clinician to prevent potentially devastating sequelae. We provide practical guidance on the investigation and management of this complex disorder. With a ‘back to basics’ approach to the underlying genetics and biochemistry, we hope to dispel some of the confusion that may obstruct a timely diagnosis.

  • porphyria
  • neuropathy

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Footnotes

  • Contributors ROM: first draft of manuscript and revision. GR and PS: revision of first draft. OB: overall responsibility for revisions, submission and resubmission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Commissioned; externally peer reviewed. This paper was reviewed by Herbert Bonkovsky, North Carolina, USA.

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