Porphyria is a disease caused by defects in the activity of any of the eight enzymes required for the heme synthesis pathway. Most of these are genetic diseases, and the main clinical symptoms are abdominal pain, neuropsychiatric symptoms and skin lesions. Detection of high levels of porphyrin and/or its precursors in blood, urine and feces can be used as diagnostic clues, and known genetic mutations can confirm the diagnosis. Porphyria is rare in clinical practice. However, in recent years, the number of porphyria patients with hepatic disease as the initial symptom has been increasing. Here, we focus on porphyria-related hepatic manifestations and their diagnosis and treatment, so as to provide recommendations for clinicians to reduce the misdiagnosis and missed diagnosis incidence rate.
卟啉病（porphyria）是血红素合成途径所需8种酶中任一酶活性缺陷所致的代谢障碍性疾病，多为遗传性病变，临床症状以腹痛、神经精神症状及皮损为主。血液、尿液及粪便中检测到高水平卟啉和/或其前体物质可作为诊断线索，检测到已知的基因突变可确诊。卟啉病在临床上较少见，近年来以肝脏疾病为首诊症状的卟啉病患者有增多趋势，现重点介绍卟啉病相关的肝脏表现及其诊治，为临床工作者提供诊疗建议，降低误诊、漏诊率。.