Universidade Federal de São Paulo, Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, São Paulo SP, Brazil.
Arq Neuropsiquiatr. 2021 Jan;79(1):68-80. doi: 10.1590/0004-282X20200096.
Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis.
We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias.
The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias.
Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients.
This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.
急性肝卟啉症是一组不断扩展的遗传性代谢紊乱疾病，由涉及血红素生物合成的先天性代谢错误引起。
我们旨在综述与急性肝卟啉症相关的主要临床和治疗方面。
作者对急性肝卟啉症的当前概念和最新知识进行了广泛的非系统性综述。
急性神经内脏发作是该组最常见和最具生命威胁的表现，并且在鉴别诊断和开始急性卟啉症的适当诊断性检查时，通常被临床医生视为主要的临床表现。然而，伴有中枢神经系统受累、神经精神障碍和一些伴有光敏性的亚型的不典型表现通常使明确诊断变得困难且延迟。在急诊治疗和间歇期进行早期治疗干预对于避免反复发作的严重表现至关重要。新型疾病修饰治疗方法的出现，基于小干扰 RNA (siRNA) 治疗，补充经典的静脉葡萄糖输注和血红素治疗，强调了早期诊断和对患者进行遗传咨询的重要性。
本文综述了急性肝卟啉症在临床实践中的主要生化、病理生理、临床和治疗方面。
