Valbuena Valecillos Adriana, Yatham Puja, Alderman Matison, Shapiro Lauren, Tiozzo Eduard, Gober Joslyn
Department of Physical Medicine and Rehabilitation, University of Miami Miller School of Medicine/Jackson Memorial Hospital, Miami, USA.
Department of Medicine, Herbert Wertheim College of Medicine, Miami, USA.
Cureus. 2023 Aug 28;15(8):e44260. doi: 10.7759/cureus.44260. eCollection 2023 Aug.
Acute intermittent porphyria (AIP) is an uncommon metabolic disease that impacts multiple organs and can manifest in many ways. It is often misdiagnosed due to its nonspecific symptoms. Neurovisceral signs and symptoms should alert physicians to consider AIP in the differential after excluding more common causes. Identifying the underlying cause is critical in preventing acute attacks, and trigger avoidance is the optimal approach to managing AIP. Medications that are contraindicated should be reviewed thoroughly. Prompt intravenous hematin administration is the primary treatment for acute attacks, and additional pharmacological therapies may be necessary to treat concurrent symptoms. A severe neurological manifestation of AIP is flaccid paralysis or severe motor weakness, which can develop into total quadriplegia and respiratory insufficiency. A comprehensive rehabilitation program is an integral aspect of the treatment plan. Since the incidence of this disease is low, functional prognosis is not well-known. As a result, it is challenging to determine the most appropriate structure, intensity, and duration of rehabilitation therapy. By extending the treatment plan, individuals with tetraplegia due to AIP can continue to make functional gains years after the onset of weakness. Understanding the disease's functional prognosis will aid in coordinating resources and improving healthcare expenditures.
急性间歇性卟啉病（AIP）是一种罕见的代谢性疾病，会影响多个器官，且有多种表现形式。因其症状不具特异性，该病常被误诊。在排除更常见病因后，神经内脏体征和症状应提醒医生在鉴别诊断时考虑AIP。明确潜在病因对于预防急性发作至关重要，避免触发因素是管理AIP的最佳方法。应全面审查禁忌使用的药物。及时静脉注射血红素是急性发作的主要治疗方法，可能还需要其他药物疗法来治疗并发症状。AIP的一种严重神经表现是弛缓性麻痹或严重肌无力，可发展为完全性四肢瘫和呼吸功能不全。全面的康复计划是治疗方案的一个重要组成部分。由于这种疾病的发病率较低，功能预后尚不清楚。因此，确定康复治疗最合适的结构、强度和持续时间具有挑战性。通过延长治疗计划，因AIP导致四肢瘫的患者在出现肌无力数年之后仍可继续获得功能改善。了解该疾病的功能预后将有助于协调资源并改善医疗费用支出。
