Erythropoietic protoporphyria with jaundice as the main manifestation:a clinical, pathological, and genetic analysis of 4 cases

Objective To investigate the clinical, pathological, and genetic features of erythropoietic protoporphyria, and to enhance the knowledge of liver involvement in this disease.Methods A retrospective analysis was performed for the clinical data of 4 patients with erythropoietic protoporphyria with jaundice as the main manifestation who were hospitalized in Peking Union Medical College Hospital from July 2011 to September 2014, including clinical features, liver pathology, and gene mutations.Results All the children had an acute/subacute onset, with intrahepatic cholestatic jaundice as the main clinical feature.The liver function test showed gamma-glutamyl transpeptidase 425-1152 U/L, alkaline phosphatase 196-356 U/L, total bilirubin 287-485 μmol/L, and direct bilirubin 216-394 μmol/L.All the patients experienced typical skin pain, erythema, and blisters after sunshine in their childhood.Further examinations showed free erythrocyte protoporphyrin 49.8-113.1 μg/g Hb, liver pathological examination showed“Maltese”cross under a polarizing microscope, and mutations at different loci of FECH gene were detected.Conclusion For patients with intrahepatic cholestatic liver disease with typical painful erythema after sunshine, the possibility of erythropoietic protoporphyria should be considered.Skin/liver pathology, erythrocyte protoporphyrin, and FECH gene detection help with the diagnosis of this disease.