title: Update review of the acute porphyrias.
abstract: Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Severe attacks may be complicated by hyponatraemia, peripheral neuropathy sometimes causing paralysis, seizures and psychiatric features. Attacks are triggered by prescribed drugs, alcohol, hormonal changes, fasting or stress. The diagnosis is made by finding increased porphobilinogen excretion in a light-protected random urine sample. Management includes administration of intravenous human haemin and supportive treatment with non-porphyrinogenic drugs. A few patients develop recurrent attacks, a chronic illness requiring specialist management. Late complications include chronic pain, hepatocellular carcinoma, chronic renal failure and hypertension. In the UK, the National Acute Porphyria Service provides clinical advice and supplies haemin when indicated.
authors.affiliation: Department of Haematological Medicine, King's College Hospital, London, UK.
authors.forename: Penelope E
authors.initials: PE
authors.lastname: Stein
authors.affiliation: Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK.
authors.forename: Michael N
authors.initials: MN
authors.lastname: Badminton
authors.affiliation: Department of Haematological Medicine, King's College Hospital, London, UK.
authors.forename: David C
authors.initials: DC
authors.lastname: Rees
mesh_terms: D002908:Chronic Disease; D019468:Disease Management; D006801:Humans; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000473:pathology / Q000628:therapy
keywords: National Acute Porphyria Service; acute intermittent porphyria; haemin; hereditary coproporphyria; variegate porphyria