Kumar Smriti Rajita, Byrnes Diana, Mahfouz Mahmoud, Rosenblatt Joseph, Levy Cynthia
Department of Medicine, University of Miami Miller School of Medicine, Miami, FL.
Department of Hematology and Oncology, University of Miami Miller School of Medicine, Miami, FL.
ACG Case Rep J. 2022 Jul 11;9(7):e00827. doi: 10.14309/crj.0000000000000827. eCollection 2022 Jul.
Acute intermittent porphyria (AIP) is a disorder that affects heme synthesis, leading to accumulation of upstream precursors, and can cause an array of visceral and neurological symptoms. These can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion. We outline a rare case of severe AIP masquerading as ascending polyneuropathy and how it was correctly diagnosed and treated with an extended course of hemin despite initial barriers to biochemical testing for AIP.
急性间歇性卟啉病(AIP)是一种影响血红素合成的疾病,导致上游前体物质积累,并可引起一系列内脏和神经症状。如果不及时诊断和治疗,这些症状可能会严重致残甚至致命。我们概述了一例罕见的严重AIP伪装成上行性多发性神经病的病例,以及尽管在进行AIP生化检测时最初遇到障碍,但如何通过延长疗程的氯高铁血红素对其进行正确诊断和治疗。