Department of Medicine, Pontifical Catholic University of Campinas, São Paulo, Brazil.
Neurosurgery Department, Pontifical Catholic University of Campinas, Campinas, Brazil.
Cardiovasc Hematol Agents Med Chem. 2021;19(1):3-7. doi: 10.2174/1871525718666200910162000.
Acute porphyrias cause life-threatening attacks of neurovisceral non-specific symptoms, so this condition mimics many acute medical and psychiatric diseases. The disease is very misdiagnosed, probably due to its low incidence and non-pathognomonic symptoms, this delays the effective treatment onset. Early diagnosis and treatment highly improve the prognosis and can prevent the development of neuropathic manifestations.
We assembled a systematic review, following the PRISMA guidelines and using Pubmed as our database. Our aim was to show some peculiarities among patients that present neurological manifestations in acute porphyria attack. We obtained the patients' age, sex, clinical presentation, eurological manifestations and porphyria type of 16 patients. We also evaluated the time between symptoms onset and neurological manifestations. The average age was 28,4 ± 11,1; 50% of patients were male.
AIP was the most prevalent porphyria type. The average time between symptoms onset and neurological manifestations was of 9,53 ± 11,6 days. Abdominal pain; nausea and vomiting and psychiatric manifestations were the most common symptoms preceding neurological attacks. Seizures and consciousness disturbance were the most prevalent findings within an attack. We also presenting a case to illustrate how difficult this diagnosis can be.
急性卟啉症会导致危及生命的神经内脏非特异性症状发作，因此这种疾病会模仿许多急性医学和精神疾病。由于其发病率低且无特征性症状，这种疾病的误诊率非常高，这会延迟有效治疗的开始。早期诊断和治疗可以显著改善预后，并可预防神经病变表现的发展。
我们按照 PRISMA 指南进行了系统回顾，并使用 Pubmed 作为我们的数据库。我们的目的是展示急性卟啉症发作时出现神经表现的患者的一些特征。我们获得了 16 名患者的年龄、性别、临床表现、神经表现和卟啉症类型。我们还评估了症状发作和神经表现之间的时间间隔。平均年龄为 28.4±11.1；50%的患者为男性。
AIP 是最常见的卟啉症类型。症状发作和神经表现之间的平均时间为 9.53±11.6 天。腹痛、恶心、呕吐和精神症状是神经发作前最常见的症状。发作期间最常见的发现是癫痫发作和意识障碍。我们还提供了一个病例来说明这个诊断可能有多么困难。
