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A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female

Overview
Journal Cureus
Date 2023 Mar 13
PMID 36909084
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Abstract

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is challenging to diagnose and treat. Symptoms are nonspecific and severe acute attacks may be life-threatening. This is a case of a previously healthy 21-year-old woman diagnosed with an acute attack of AIP following recurrent hospitalizations with undiagnosed abdominal pain over a 12-month period with gradual onset of motor neuropathy which resulted in complete paralysis and respiratory failure. Through our case, we will highlight the challenges in AIP diagnosis and management, its potential severity, and how an early diagnosis could have prevented severe disability.

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References
1.
Souza P, Badia B, Farias I, Pinto W, Oliveira A . Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations. Front Neurosci. 2021; 15:715523. PMC: 8502968. DOI: 10.3389/fnins.2021.715523. View

2.
Linenberger M, Fertrin K . Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP. Hematology Am Soc Hematol Educ Program. 2020; 2020(1):400-410. PMC: 7727547. DOI: 10.1182/hematology.2020000124. View

3.
Gouya L, Ventura P, Balwani M, Bissell D, Rees D, Stolzel U . EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology. 2019; 71(5):1546-1558. PMC: 7255459. DOI: 10.1002/hep.30936. View

4.
Kuo H, Lin C, Tang Y . Prophylactic Heme Arginate Infusion for Acute Intermittent Porphyria. Front Pharmacol. 2021; 12:712305. PMC: 8526969. DOI: 10.3389/fphar.2021.712305. View

5.
Balwani M, Sardh E, Ventura P, Aguilera Peiro P, Rees D, Stolzel U . Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. N Engl J Med. 2020; 382(24):2289-2301. DOI: 10.1056/NEJMoa1913147. View