Acute Intermittent Porphyria- Perplexed by the Purple

Abstract

Porphyrias are rare, genetically inherited group of disorders. The most common disorder among acute porphyrias are the acute intermittent porphyria, which occurs due a defect of the enzyme porphobilinogendeaminase, presenting commonly with a triad of symptoms: visceral abdominal pain, neurological dysfunction and psychiatric disturbances. Non specific myriad of symptoms causes a diagnostic confusion and delay, leading to multiple investigations, unnecessary treatment interventions, high cost of management, with frequent visits to emergency room and a prolonged ward stay. A more perplexing picture appears due to the absence of hard physical findings, and the patients get dismissed for years as “Functional”, Malingerers, Mentally ill. In underdeveloped countries, owing to limited investigative procedures, costly laboratory investigations, poor socio-economic status, much reliance on clinical judgment is required.