Best practice guidelines on clinical management of acute attacks of porphyria and their complications

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  • Penelope Stein
    Department of Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ
  • Mike Badminton
    Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff CF14 4XW
  • Julian Barth
    Department of Clinical Chemistry, Leeds General Infirmary, Leeds LS1 3EX
  • David Rees
    Department of Haematology, King's College Hospital, London SE5 9RS
  • M Felicity Stewart
    University of Manchester, Manchester Academic Health Sciences Centre, Department of Clinical Biochemistry, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK

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<jats:p> The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porphyria may occur in acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Aminolaevulinic acid dehydratase deficiency porphyria (ADP) is a very rare autosomal recessive porphyria; only six cases substantiated by mutation analysis have yet been described in the literature. </jats:p><jats:p> Urinary porphobilinogen (PBG) is always raised in an acute attack due to AIP, VP or HCP and this analysis is essential to confirm the diagnosis. A positive result in a qualitative or semi-quantitative screening test must be followed by PBG quantitation at the earliest opportunity. However in a severely ill patient, treatment should not be delayed. </jats:p><jats:p> Removal of precipitating factors, effective analgesia and control of symptoms with safe medication, attention to nutrition and fluid balance are essential. The indications for use of intravenous haem arginate are set out, together with advice on its administration. A small proportion of acute porphyria patients develop recurrent attacks and management options that may be considered include gonadotrophin-releasing hormone analogues, ‘prophylactic’ regular haem arginate infusion or ultimately, liver transplantation. </jats:p>

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