Zeng T, Chen SR, Liu HQ, Chong YT, Li XH. Successful treatment of severe hepatic impairment in erythropoietic protoporphyria: A case report and review of literature. World J Hepatol 2024; 16(6): 966-972 [PMID: 38948434 DOI: 10.4254/wjh.v16.i6.966]
Corresponding Author of This Article
Xin-Hua Li, MD, PhD, Professor, Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-sen University, No. 600 Tianhe Road, Tianhe District, Guangzhou 510630, Guangdong Province, China. lixinh8@mail.sysu.edu.cn
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Hepatol. Jun 27, 2024; 16(6): 966-972 Published online Jun 27, 2024. doi: 10.4254/wjh.v16.i6.966
Successful treatment of severe hepatic impairment in erythropoietic protoporphyria: A case report and review of literature
Tao Zeng, Shu-Ru Chen, Hao-Qiang Liu, Yu-Tian Chong, Xin-Hua Li
Tao Zeng, Department of Infectious Diseases, Key Laboratory of Liver Disease of Guangdong Province, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, Guangdong Province, China
Shu-Ru Chen, Yu-Tian Chong, Xin-Hua Li, Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, Guangdong Province, China
Hao-Qiang Liu, Department of Blood Transfusion, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, Guangdong Province, China
Author contributions: Zeng T contributed to writing the original draft, methodology, software development, and data curation; Chen SR was involved in methodology, data curation, and visualization; Liu HQ contributed to investigation and software development; Chong YT provided supervision and methodology; Li XH was responsible for conceptualization and supervision. All authors have read and approved the final manuscript.
Informed consent statement: Written informed consent has been obtained from the patient for the publication of this case report.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xin-Hua Li, MD, PhD, Professor, Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-sen University, No. 600 Tianhe Road, Tianhe District, Guangzhou 510630, Guangdong Province, China. lixinh8@mail.sysu.edu.cn
Received: January 25, 2024 Revised: May 10, 2024 Accepted: May 14, 2024 Published online: June 27, 2024 Processing time: 146 Days and 12.7 Hours
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.
Core Tip: Erythropoietic protoporphyria (EPP) is a rare autosomal recessive disorder, with few reported cases of associated hepatic injury, posing significant diagnostic challenges. Conventional therapies frequently fall short in severe cases, leading to the necessity for liver transplantation. Here, we report the case of a 35-year-old patient with EPP experiencing progressive liver dysfunction, unresponsive to standard medical care. A novel intervention comprising combined red blood cell exchange and plasma exchange therapies was administered. This approach resulted in a marked improvement in the patient’s liver function, highlighting a potentially effective alternative treatment for serious hepatic manifestations in EPP.
