Ramzan Adil, Cao Jenny Jia Ling, Frazer John S, Stein Penelope, Ahmad Shakeel
Stroke Medicine, Whipps Cross Hospital, London, GBR.
Endocrinology and Diabetes, Peterborough City Hospital, Peterborough, GBR.
Cureus. 2023 Feb 8;15(2):e34757. doi: 10.7759/cureus.34757. eCollection 2023 Feb.
Acute intermittent porphyria (AIP) is a rare metabolic disorder that is challenging to diagnose and treat. Symptoms are nonspecific and severe acute attacks may be life-threatening. This is a case of a previously healthy 21-year-old woman diagnosed with an acute attack of AIP following recurrent hospitalizations with undiagnosed abdominal pain over a 12-month period with gradual onset of motor neuropathy which resulted in complete paralysis and respiratory failure. Through our case, we will highlight the challenges in AIP diagnosis and management, its potential severity, and how an early diagnosis could have prevented severe disability.
急性间歇性卟啉病(AIP)是一种罕见的代谢紊乱疾病,诊断和治疗颇具挑战性。其症状不具特异性,严重急性发作可能危及生命。这是一例先前健康的21岁女性病例,该患者在12个月内因未确诊的腹痛反复住院,随后被诊断为AIP急性发作,同时逐渐出现运动神经病变,导致完全瘫痪和呼吸衰竭。通过我们的病例,我们将突出AIP诊断和管理中的挑战、其潜在严重性,以及早期诊断如何能够预防严重残疾。