Bielen L, Vujaklija Brajković A, Zlopaša O, Šućur N, Lovrić M, Šitum A, Stein P. Acute intermittent porphyria presenting with rhabdomyolysis and polyneuropathy with severe quadriparesis and respiratory failure: A case report. World J Crit Care Med 2026; 15(3): 120909 [DOI: 10.5492/wjccm.120909]
Corresponding Author of This Article
Ana Vujaklija Brajković, MD, PhD, Assistant Professor, Department of Internal Medicine, University Hospital Centre Zagreb, Kišpatićeva 12, Zagreb 10000, Croatia. avujaklija@gmail.com
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Critical Care Medicine
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case-report
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Bielen L, Vujaklija Brajković A, Zlopaša O, Šućur N, Lovrić M, Šitum A, Stein P. Acute intermittent porphyria presenting with rhabdomyolysis and polyneuropathy with severe quadriparesis and respiratory failure: A case report. World J Crit Care Med 2026; 15(3): 120909 [DOI: 10.5492/wjccm.120909]
World J Crit Care Med. Sep 9, 2026; 15(3): 120909 Published online Sep 9, 2026. doi: 10.5492/wjccm.120909
Acute intermittent porphyria presenting with rhabdomyolysis and polyneuropathy with severe quadriparesis and respiratory failure: A case report
Luka Bielen, Ana Vujaklija Brajković, Ozrenka Zlopaša, Nediljko Šućur, Mila Lovrić, Anja Šitum, Penelope Stein
Luka Bielen, Ana Vujaklija Brajković, Department of Internal Medicine, University Hospital Centre Zagreb, Zagreb 10000, Croatia
Ozrenka Zlopaša, Division of Intensive Care, Department of Internal Medicine, University Hospital Centre Zagreb, Zagreb 10000, Croatia
Nediljko Šućur, Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Centre Zagreb, Zagreb 10000, Croatia
Mila Lovrić, Department for Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb 10000, Croatia
Anja Šitum, School of Medicine Zagreb, University of Zagreb, Zagreb 10000, Croatia
Penelope Stein, Department of Haematology, King’s College Hospital London, London SE5 9RS, London, United Kingdom
Author contributions: Bielen L and Stein P concepted and designed the manuscript and drafted the article; Vujaklija Brajković A, Zlopaša O and Šitum A analyzed and interpreted the data and revised the manuscript critically for important intellectual content; Šućur N and Lovrić M analyzed and interpreted the data and drafted the manuscript; and all the authors listed on the title page have contributed substantially in the manuscript preparation.
AI contribution statement: AI tools were used solely for linguistic refinement and formatting assistance. No AI tool was involved in the generation of research data, interpretation of results, or formulation of conclusions. AI-generated outputs were critically reviewed and revised by the authors.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Ana Vujaklija Brajković, MD, PhD, Assistant Professor, Department of Internal Medicine, University Hospital Centre Zagreb, Kišpatićeva 12, Zagreb 10000, Croatia. avujaklija@gmail.com
Received: March 11, 2026 Revised: May 4, 2026 Accepted: May 21, 2026 Published online: September 9, 2026 Processing time: 169 Days and 11.1 Hours
Abstract
BACKGROUND
Acute intermittent porphyria (AIP) is the most common form of acute porphyria, a group of rare inherited disorders of heme biosynthesis. Severe attacks may be associated with life-threatening complications, including peripheral motor neuropathy, encephalopathy and seizures. Very rarely, an acute AIP attack can be complicated by rhabdomyolysis as illustrated in this case report.
CASE SUMMARY
A 28-year-old female presented with severe abdominal pain and muscle weakness, which progressed to severe rhabdomyolysis and acute kidney injury requiring dialysis. The disease course was further complicated by an acute severe axonal peripheral motor neuropathy with quadriparesis and respiratory muscle weakness requiring prolonged invasive mechanical ventilation. An important clue for diagnosis was red urine without hematuria. The diagnosis was established by the finding of elevated δ-aminolevulinic acid and porphobilinogen in a random urine sample and later confirmed by genetic testing. The patient was initially treated with hemin and parenteral glucose. However, since she needed prolonged treatment, givosiran was commenced and continued after discharge. When the period between givosiran administrations was extended to two months, this led to a new (milder) attack. After 40 months of givosiran treatment and continued physical rehabilitation, the patient is ambulatory and without acute attacks.
CONCLUSION
Our case illustrates that treatment with hemin and givosiran for longer than two years may be needed for neurological recovery after an AIP attack with severe motor polyneuropathy and multisystem involvement.
Core Tip: Rhabdomyolysis is a rare but important manifestation of an acute intermittent porphyria (AIP) attack. In this clinical scenario, urine discolouration might erroneously be ascribed to rhabdomyolysis, underlying the need for AIP diagnostic workup in the right clinical context. Our case illustrates that treatment with hemin and givosiran for longer than two years may be needed after a severe AIP attack with rhabdomyolysis and severe quadriparesis. If the period between givosiran administrations is prolonged, the physician must be vigilant for the possibility of a new attack.
