Upchurch Margaret, Donnelly Jonathan P, Deremiah Emily, Barthol Colleen, Hafeez Shaheryar, Anderson Karl E, Seifi Ali
Department of Neurology, University of Colorado Anschutz Medical Campus, Denver, USA.
Department of Neurology, University of Texas Health Science Center at San Antonio, San Antonio, USA.
Cureus. 2022 Jan 25;14(1):e21586. doi: 10.7759/cureus.21586. eCollection 2022 Jan.
Hereditary coproporphyria (HCP) is a rare disorder caused by a deficiency of an enzyme, coproporphyrinogen oxidase, in the heme synthetic pathway. This disease has a highly variable clinical presentation with acute attacks of neurologic symptoms that can last from days to months. Rarely, it and other acute porphyrias may cause ascending paralysis, which is difficult to distinguish from Guillain-Barré syndrome (GBS). Acute attacks can be triggered by factors that increase the synthesis of heme, such as hormonal changes, certain medications, dietary changes, and infections. We report a 26-year-old female with HCP who presented with acute ascending flaccid paralysis and respiratory failure after coronavirus disease 2019 (COVID-19) infection and was initially misdiagnosed and treated for GBS. She was transferred to our neurosciences intensive care unit, where the diagnosis of acute porphyria was established. Initial improvement occurred during treatment for several weeks with hemin (Panhematin®) and continued with givosiran (Givlaari®), which was recently introduced for the prevention of acute attacks. We suggest that acute porphyria should be part of the differential diagnosis when GBS is suspected. To our knowledge, this is the first report of an attack of acute hepatic porphyria (AHP) that developed after a COVID-19 infection and the first with advanced paresis to be treated with givosiran. Her response suggests that givosiran may contribute to recovery from advanced neurological manifestations of acute porphyrias.
遗传性粪卟啉原卟啉病（HCP）是一种罕见的疾病，由血红素合成途径中一种酶——粪卟啉原氧化酶缺乏所致。该病临床表现高度多变，会出现持续数天至数月的神经系统症状急性发作。它和其他急性卟啉病极少会引起上行性麻痹，这很难与吉兰-巴雷综合征（GBS）相区分。急性发作可由增加血红素合成的因素触发，如激素变化、某些药物、饮食改变和感染。我们报告了一名26岁患有HCP的女性，她在感染2019冠状病毒病（COVID-19）后出现急性上行性弛缓性麻痹和呼吸衰竭，最初被误诊为GBS并接受治疗。她被转至我们的神经科学重症监护病房，在那里确诊为急性卟啉病。最初在使用血红素（Panhematin®）治疗数周期间病情有所改善，并继续使用吉沃西兰（Givlaari®）治疗，吉沃西兰是最近用于预防急性发作的药物。我们建议，当怀疑为GBS时，急性卟啉病应作为鉴别诊断的一部分。据我们所知，这是首例关于COVID-19感染后发生急性肝卟啉病（AHP）发作的报告，也是首例使用吉沃西兰治疗晚期麻痹的报告。她的反应表明，吉沃西兰可能有助于急性卟啉病晚期神经表现的恢复。
