Liver disease and erythropoietic protoporphyria: a concise review.

[erythropoietic protoporphyria]

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 non-surgical 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 .

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erythropoietic protoporphyria

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