Published online Feb 21, 2019. doi: 10.3748/wjg.v25.i7.880
Peer-review started: November 14, 2018
First decision: December 28, 2018
Revised: January 21, 2019
Accepted: January 26, 2019
Article in press: January 26, 2019
Published online: February 21, 2019
Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the FECH gene. EPP combined with liver injury is even rarer.
This paper reports a case of EPP which was admitted to the hospital with abnormal liver function and diagnosed by repeated questioning of medical history, screening of common causes of severe liver injury, and second generation sequencing of the whole exon genome. We also summarize the clinical characteristics of EPP with liver injury, and put forward some suggestions on EPP to provide a reference for the diagnosis of such rare disease.
A new mutation locus (c.32_35dupCCCT) which may be related to the disease was found by detecting the FECH gene in the pedigree of this case.
Core tip: The diagnosis of erythropoietic protoporphyria (EPP) is often delayed due to the lack of awareness among doctors. The major highlights of this paper are: (1) EPP patients may suffer from severe liver injury and be misdiagnosed for a long term with liver disease of unknown origin. Therefore, EPP screening should be performed in the clinic for patients with hepatitis accompanied by skin symptoms; (2) an invisible inheritance of EPP is difficult to diagnose, especially for patients whose parents are carriers and have no clinical symptoms; and (3) in the present case, a de novo mutation, c.32_35 dupCCCT (p.Arg13fs), was found to have a possible association with EPP disease.