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Wensink D, Wagenmakers MA, Wilson JP, Langendonk JG. Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report. World J Gastroenterol 2019; 25(30): 4292-4293 [PMID: 31435180 DOI: 10.3748/wjg.v25.i30.4292]
World J Gastroenterol. Aug 14, 2019; 25(30): 4292-4293 Published online Aug 14, 2019. doi: 10.3748/wjg.v25.i30.4292
Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report
Debby Wensink, Margreet AEM Wagenmakers, JH Paul Wilson, Janneke G Langendonk
Debby Wensink, Margreet AEM Wagenmakers, JH Paul Wilson, Janneke G Langendonk, Porphyria Center Rotterdam, Center for lysosomal and metabolic disease, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam 3015 GD, Netherlands
Author contributions: Wensink D drafted the manuscript; Langendonk JG, Wagenmakers MAEM and Wilson JH edited and revised the manuscript. Wensink D approved the final version of the manuscript.
Conflict-of-interest statement: Langendonk JG reports participation in trials sponsored by Clinuvel and Alnylam, outside the submitted work. All other authors declared no conflict-of-interest.
Corresponding author: Janneke G Langendonk, MD, PhD, Internist, Department of Internal Medicine, Erasmus University Medical Center, Dr. Molenwaterplein 40, Rotterdam 3015 GD, Netherlands. j.langendonk@erasmusmc.nl
Telephone: +31-10-7035191 Fax: +31-10-7033639
Received: May 7, 2019 Peer-review started: May 7, 2019 First decision: June 9, 2019 Revised: July 17, 2019 Accepted: July 19, 2019 Article in press: July 19, 2019 Published online: August 14, 2019 Processing time: 100 Days and 5.8 Hours
Abstract
Erythropoietic protoporphyria (EPP) is an extremely rare disease which is often unrecognized as diagnosis. In the recent article Lui et al describe a patient with a new diagnosis of EPP with severe liver injury. Approximately 5%-20% of patients with EPP develop liver manifestations. The most severe complication of EPP is an hepatic crisis, which is a medical emergency requiring urgent treatment. Intensive treatment should consist of (exchange) transfusions and preferably in a center that performs liver transplantations.
Core tip: Erythropoietic protoporphyria (EPP) can be complicated by severe liver injury. The major highlight of this letter is to stress that an EPP hepatic crisis has to be recognized as it can be fatal, and the best therapeutic options are (exchange) transfusions and preferably in a center that performs liver transplantations.
