Ooi Chwee Fern, Tang Chao Tian, Ting Sing Qin, Rawtaer Iris, Tan Ho Teck
Department of Psychiatry, Sengkang General Hospital, Singapore, SGP.
Cureus. 2025 Jun 11;17(6):e85815. doi: 10.7759/cureus.85815. eCollection 2025 Jun.
Acute intermittent porphyria (AIP) is the most common type of acute porphyria, caused by reduced porphobilinogen deaminase activity, leading to accumulations of neurotoxic compounds. Symptoms usually include abdominal pain, autonomic dysfunction, neurological involvement, and psychiatric symptoms. Neuropsychiatric symptoms such as psychosis are common and may contribute to diagnostic delays. We report a case of a middle-aged woman presenting with psychiatric and neurovisceral symptoms of AIP. This report discusses the case of a 41-year-old woman with no prior psychiatric history presenting with an acute onset of psychotic symptoms, including persecutory, erotomanic, and Capgras delusions, disorganized behavior, and agitation, along with physical symptoms of acute abdominal pain and autonomic disturbances. An extensive organic workup revealed elevated urinary porphobilinogen, which confirmed the diagnosis of AIP. The patient was treated medically, and her psychiatric symptoms completely resolved with olanzapine within eight days, without adverse effects. This case reveals the importance of considering AIP in patients presenting with acute psychosis, particularly when accompanied by autonomic and abdominal symptoms. Olanzapine appears to be a safe and effective treatment for AIP-related psychosis, though careful monitoring is essential due to the variable drug responses and potential hepatic risks. Further studies are needed to establish standardized treatment guidelines for neuropsychiatric symptoms in AIP.
急性间歇性卟啉病(AIP)是最常见的急性卟啉病类型,由胆色素原脱氨酶活性降低引起,导致神经毒性化合物蓄积。症状通常包括腹痛、自主神经功能障碍、神经受累及精神症状。诸如精神病等神经精神症状很常见,可能导致诊断延误。我们报告一例出现AIP精神和神经内脏症状的中年女性病例。本报告讨论了一名41岁无既往精神病史的女性,她急性起病,出现精神病性症状,包括被害妄想、钟情妄想和卡普格拉妄想、行为紊乱及激越,同时伴有急性腹痛和自主神经功能障碍的躯体症状。全面的器质性检查发现尿胆色素原升高,从而确诊为AIP。该患者接受了药物治疗,其精神症状在8天内使用奥氮平后完全缓解,且无不良反应。该病例揭示了在出现急性精神病的患者中考虑AIP的重要性,尤其是伴有自主神经和腹部症状时。奥氮平似乎是治疗AIP相关精神病的一种安全有效的药物,不过由于药物反应多变及潜在的肝脏风险,仔细监测至关重要。需要进一步研究以建立AIP神经精神症状的标准化治疗指南。