Journal of Clinical Cases

Erythropoietic Protoporphyria: The Real Culprit Of Unexplained Liver Dysfunction

Xiaona Lu, Kun Liu, Wenlan Zheng,Xuemei Zhang,Jia Shi,Shihan Yu, Hai Feng, Yueqiu Gao and Zhuo Yu

1. Department of Liver Disease, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China
2. Department of Pathology, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China
3. Institute of Infectious Disease, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China

Corresponding Author: Zhuo Yu

ABSTRACT

Erythropoietic protoporphyria (EPP) is an inborn error in heme biosynthesis caused by a pathogenic variant encoding the mitochondrial enzyme ferrous chelatase (FECH). Patients with EPP commonly present with lifelong cutaneous photosensitivity and potential liver disease. Here, we reported a clinical case of EPP in a Chinese patient who only exhibited abnormal liver enzyme, but no photosensitivity manifestations. The results of whole-exome next-generation sequencing in the patient indicated a homozygous intronic mutation in the FECH gene: c.315-48T>C, which confirmed the diagnosis of EPP.

Keywords: Liver Dysfunction; Erythropoietic Protoporphyria; Diagnosis