Porphyria: often discussed but too often missed

Abstract

The diagnosis of acute intermittent porphyria (AIP) is often overlooked. We describe a patient with this condition who had all the ‘bells and whistles’, in whom the diagnosis was only made after considerable delay. Far from an esoteric condition haunting examination candidates, AIP is an important cause of a broad spectrum of neurological symptoms. Its early recognition allows the astute clinician to prevent potentially devastating sequelae. We provide practical guidance on the investigation and management of this complex disorder. With a ‘back to basics’ approach to the underlying genetics and biochemistry, we hope to dispel some of the confusion that may obstruct a timely diagnosis.