Tao Zeng, Shu-Ru Chen, Hao-Qiang Liu, Yu-Tian Chong, Xin-Hua Li
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Abstract
Background: Erythropoietic protoporphyria (EPP) is a rare genetic disorder stemming from ferrochelatase gene mutations, which leads to abnormal accumulation of protoporphyrin IX primarily in erythrocytes, skin, bone marrow and liver. Although porphyria-related severe liver damage is rare, its consequences can be severe with limited treatment options.
Case summary: This case study highlights a successful intervention for a 35-year-old male with EPP-related liver impairment, employing a combination of red blood cell (RBC) exchange and therapeutic plasma exchange (TPE). The patient experienced significant symptom relief and a decrease in bilirubin levels following multiple PE sessions and an RBC exchange.
Conclusion: The findings suggest that this combined approach holds promise for managing severe hepatic impairment in EPP.
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