The porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty. Here, we review the porphyrias and describe their clinical presentation, diagnosis, and management. We discuss novel therapies that are approved or in development. Early diagnosis is key for the appropriate management and prevention of long-term complications in these rare disorders.

中文翻译：

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卟啉症的最新进展

卟啉症是一组罕见疾病，每种疾病都是由血红素生物合成途径的不同酶促步骤的缺陷引起的。根据血红素中间体积累的主要部位，它们可大致分为两类：肝性卟啉症和红细胞生成性卟啉症。这些疾病是多系统的，具有不同的症状，任何专业的医生都可能遇到。在这里，我们回顾卟啉症并描述其临床表现、诊断和治疗。我们讨论已批准或正在开发的新疗法。早期诊断对于适当管理和预防这些罕见疾病的长期并发症至关重要。