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Background <p>Variegate porphyria (VP) is a&#xa0;rare metabolic disorder resulting in a&#xa0;deficiency of the heme synthesis pathway. Patients typically present with photosensitive skin lesions, hypertension, abdominal pain, and heterogeneous neuropsychiatric symptoms, including psychosis.</p> Methods <p>We report a&#xa0;case of porphyria-associated psychosis in a&#xa0;female patient with VP and no prior psychiatric history. Additionally, we highlight the hypothesized underlying pathophysiological mechanisms contributing to neuropsychiatric symptoms in VP.</p> Results <p>Although VP is a&#xa0;rare cause of psychosis, its pathophysiological mechanisms are of significant interest, as they further support the plausibility of current prevailing hypotheses on the development of psychosis.</p> Conclusion <p>Management of VP requires care in specialized centers. Avoiding triggers, such as stress, fasting, and certain medications, is crucial for preventing disease flare-ups.</p>

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Acute psychosis in variegate porphyria: a case report

  • 期刊论文

  • 发表日期：

    2025年7月22日

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  • Maximilian Wolfmeir,
  • Julia Burits

摘要

Background

Variegate porphyria (VP) is a rare metabolic disorder resulting in a deficiency of the heme synthesis pathway. Patients typically present with photosensitive skin lesions, hypertension, abdominal pain, and heterogeneous neuropsychiatric symptoms, including psychosis.

Methods

We report a case of porphyria-associated psychosis in a female patient with VP and no prior psychiatric history. Additionally, we highlight the hypothesized underlying pathophysiological mechanisms contributing to neuropsychiatric symptoms in VP.

Results

Although VP is a rare cause of psychosis, its pathophysiological mechanisms are of significant interest, as they further support the plausibility of current prevailing hypotheses on the development of psychosis.

Conclusion

Management of VP requires care in specialized centers. Avoiding triggers, such as stress, fasting, and certain medications, is crucial for preventing disease flare-ups.