Erythropoietic protoporphyria with liver cirrhosis as the main manifestation： A case report

VernacularTitle:以肝硬化为主要表现的红细胞生成性原卟啉病1例报告
Author: Zhendong WU ¹ ; Guoqiang ZHOU ¹ ; Yan XIANG ¹ ; Xianling WANG ¹ ; Jiandong SU ¹ ; Sichun LIU ¹
Author Information

1. Department of Gastroenterology， Dongguan Songshan Lake Tungwah Hospital， Dongguan， Guangdong 523808， China
Publication Type:Case Reports
Keywords: Liver Cirrhosis; Protoporphyria， Erythropoietic; Diagnosis; Therapeutics
From: Journal of Clinical Hepatology 2024;40(3):581-584
CountryChina
Language:Chinese
Abstract: Erythropoietic protoporphyria （EPP） is a rare inherited metabolic disease that often involves skin， blood， and nervous systems， and EPP with the main manifestations of severe liver damage and acute abdominal pain is extremely rare. By reviewing the clinical data and genetic testing results of a patient with EPP， this article discusses the clinical features and pathogenic genes of this disease， in order to improve the understanding of the disease among hepatologists and achieve early diagnosis and treatment.