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Background <p>Acute intermittent porphyria (AIP) is a rare but treatable disease. COVID-19 has various possible complications including posterior reversible encephalopathy syndrome (PRES). COVID-19 was reported to trigger an acute attack in patients with acute hepatic porphyria (AHP). The pathophysiology of AHP-associated PRES is not fully elucidated.</p> Case presentation <p>A 31-year-old Vietnamese female initially presented with seizures, severe hyponatremia, and hypertension after COVID-19. Despite the initial treatment, she had recurrent seizures and developed PRES as confirmed by magnetic resonance imaging. Further investigations revealed a genetic mutation of c.517&#xa0;C &gt; T in <i>HMBS</i>, leading to a diagnosis of AHP. Treatment with hemin significantly improved her symptoms and corrected her electrolyte imbalance.</p> Conclusions <p>This case highlights the potential for COVID-19 to trigger acute attacks in patients with underlying porphyria, potentially leading to complications such as PRES. Also, we observed elevated catecholamine levels during an acute porphyria attack and PRES, suggesting their involvement in the pathogenesis of AIP-associated PRES. Clinicians should consider the possibility of porphyria in patients with COVID-19-associated PRES, especially when they present with gastrointestinal and neuropsychiatric symptoms.</p>

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Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月4日

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  • Hideo Handa,
  • Hiroki Masuda,
  • Satoki Hanayama,
  • Amika Kajiyama,
  • Sawako Suzuki,
  • Atsuhiko Sugiyama,
  • Koutaro Yokote,
  • Satoshi Kuwabara

摘要

Background

Acute intermittent porphyria (AIP) is a rare but treatable disease. COVID-19 has various possible complications including posterior reversible encephalopathy syndrome (PRES). COVID-19 was reported to trigger an acute attack in patients with acute hepatic porphyria (AHP). The pathophysiology of AHP-associated PRES is not fully elucidated.

Case presentation

A 31-year-old Vietnamese female initially presented with seizures, severe hyponatremia, and hypertension after COVID-19. Despite the initial treatment, she had recurrent seizures and developed PRES as confirmed by magnetic resonance imaging. Further investigations revealed a genetic mutation of c.517 C > T in HMBS, leading to a diagnosis of AHP. Treatment with hemin significantly improved her symptoms and corrected her electrolyte imbalance.

Conclusions

This case highlights the potential for COVID-19 to trigger acute attacks in patients with underlying porphyria, potentially leading to complications such as PRES. Also, we observed elevated catecholamine levels during an acute porphyria attack and PRES, suggesting their involvement in the pathogenesis of AIP-associated PRES. Clinicians should consider the possibility of porphyria in patients with COVID-19-associated PRES, especially when they present with gastrointestinal and neuropsychiatric symptoms.