Successful treatment of severe hepatic impairment in erythropoietic protoporphyria:A case report and review of literature

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.

Liver disease and erythropoietic protoporphyria:A concise review

The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of heme.In erythropoietic protoporphyria(EPP),in the majority of cases an autosomal dominant disease,there is a mutation of the gene that encodes ferrochelatase(FECH).FECH deficiency is associated with increased concentrations of protoporphyrin in erythrocytes,plasma,skin and liver.The prevalence of this inherited disorder oscillates between 1:75 000 and 1:200 000.Clinical manifestations of EPP appear in early infancy upon first exposure to the sun.Nevertheless,approximately 5%-20% of patients with EPP develop liver manifestations.Retention of protoporphyrin in the liver is associated with cholestatic phenomena and oxidative stress that predisposes to hepatobiliary disease of varying degrees of severity,such as cholelithiasis,mild parenchymal liver disease,progressive hepatocellular disease with end-stage liver disease and acute liver failure.Liver damage is the major risk in EPP patients,so surveillance and frequent clinical and biochemical liver follow-up is mandatory.The diagnostic approach consists in detecting increased levels of protoporphyrin,decreased activity of FECH and genetic analysis of the FECH gene.A variety of nonsurgical therapeutic approaches have been adopted for the management of EPP associated with liver disease,but none of these has been shown to be unequivocally efficacious.Nevertheless,some may have a place in preparing patients for liver transplantation.Liver transplantation does not correct the constitutional deficiency of FECH.Consequently,there is a risk of recurrence of liver disease after liver transplantation as a result of continuing overproduction of protoporphyrin.Some authors recommend that bone marrow transplantation should be considered in liver allograft recipients to prevent recurrence of hepatic disease.

Two Novel Mutations in FECH in a Patient With Erythropoietic Protoporphyria:A Case Report

Introduction:Erythropoietic protoporphyria(EPP)is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase(FECH).We herein report a case of EPP associated with 2 novel mutations in FECH.Case presentation:A 15-year-old boy experienced pain and pruritus after sunlight exposure.He had occasional claret-red urine,hepatomegaly with increased alanine aminotransferase and aspartate aminotransferase levels,and an elevated free erythrocyte protoporphyrin level.He was treated with oralβ-carotene and cholestyramine and avoidance of sunlight as much as possible.Discussion:Genome sequencing revealed 2 novel FECH mutations that had been inherited from his healthy parents.Pathogenicity analysis involving prediction using PolyPhen-2,SIFT,and Mutation Taster revealed that the 2 novel mutations were likely pathogenic.Although the patient’s parents were healthy,they each had one of these 2 mutations.This finding is consistent with previous reports stating that individuals carrying low-expression alleles can be asymptomatic.The pathogenesis of the disease caused by these 2 mutations requires verification by larger and more detailed studies.Conclusion:Although the precise role of these mutations in EPP is not clear,the findings in the present case expand the genotypic spectrum of the disease.

Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria:A case report

Erythropoietic protoporphyria(EPP)is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase(FECH),resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues.Here,we report a patient with photosensitive dermatitis and acute icteric hepatitis caused by EPP,whose clinical and biochemical results successfully improved following 2-month treatment with glucose load,ursodeoxycholic acid capsules,and cholestyramine powder.This case provides a reference for a combination therapy strategy for patients with liver and skin injury caused by EPP.