Acute Intermittent Porphyria in a Burn Patient: Case Study and Review of the Literature.

Abstract

Healthcare providers evaluating patients presenting with neurological, visceral, or cutaneous symptoms that are disproportionate to the expected severity may need to consider porphyria in the differential. Porphyria is an inherited condition in which toxic metabolites of the heme pathway are increased. Carriers of porphyrias are asymptomatic and will not present with classical symptoms, nor will levels be elevated, until the disease is induced by certain drugs, hormones, or idiopathic causes such as the stress of trauma. Acute intermittent porphyria, a form of acute porphyria, is a rare autosomal dominant disease that results in a dysfunctional porphobilinogen deaminase. This consequently increases neurotoxic porphobilinogen and subsequent increase in δ-aminolevulinic acid. Both of these metabolites cause neurovisceral symptoms that afflict the patient in acute attacks. We present a rare case of acute intermittent porphyria manifested in a burn patient suffering a burn injury. The patient presented with symptoms indicative of acute intermittent porphyria, including altered mental status and abdominal pain accompanied with a chronic history of alcoholism and smoking. A negative work-up, including imaging and findings of associated manifestations consistent with Acute Intermittent Porphyria led to a discovery of elevated porphyrins. The patient's course and death due to his injuries gives insight into the presentation of acute intermittent porphyria in a burn patient.

• Authors: Roald Credo, Jennifer Kesey, Deepak Bharadia, John Griswold, Alan Pang
• Journal: Journal of burn care & research : official publication of the American Burn Association (J Burn Care Res) (Sep 20 2023) ISSN: 1559-0488 [Electronic] England
• PMID: 37728521 (Publication Type: Journal Article)
• Copyright: © The Author(s) 2023. Published by Oxford University Press on behalf of the American Burn Association. All rights reserved. For permissions, please e-mail: [email protected].