Abstract

The acute porphyrias consists of a group of pharmacogenetic disorders of haem biosynthesis which are characterised by attacks of abdominal pain and neurological dysfunction. Although the genetic and biochemical basis of these diseases is now well established, the pathogenesis of the clinical manifestations remains speculative. Symptomatic and supportive therapy remain an important part of the management of the acute attacks. High carbohydrate intake and parenteral haematin administration are the only proven therapies that can modify an attack, both clinically and biochemically. However, haematin therapy does not provide satisfactory prophylaxis. The future use of luteinising hormone-releasing hormone (LHRH) agonists to prevent recurrent attacks in selected female patients is still under investigation.