Br J Haematol 2017 Feb 16;176(4):527-538. Epub 2016 Dec 16.
Department of Haematological Medicine, King's College Hospital, London, UK.
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. Read More