Porphyria

Abstract

The porphyrias are a group of inherited metabolic disorders caused by altered activities of enzymes within the heme biosynthetic pathway. Altered enzyme activity is mainly due to gene mutation or acquired inhibition of the enzyme. Porphyrias are rare and can be challenging to diagnose since symptoms are nonspecific. Furthermore, they present special anaesthetic challenges perioperatively, especially the gastrointestinal and neurological presentations of acute porphyric crisis. To meet these challenges, this review outlines porphyria pathophysiology, classifications, presentation, management, and the implications of these disorders to the anaesthetist.