Erythropoietic protoporphyria with fatal liver failure

Abstract

A 33-year-old woman with a history of photosensitivity, persistent abdominal pain, and liver dysfunction was admitted to our department because of abdominal pain and progression of liver dysfunction. On admission, levels of protoporphyrin and coproporphyrin within erythrocytes were markedly increased. Autofluorescent erythrocytes were also detected, leading to a diagnosis of erythropoietic protoporphyria. A liver biopsy specimen revealed cirrhosis with dark brown granules filling hepatocytes, bile canaliculi, and bile ductules. Transfusion of washed erythrocytes, hemodialysis, and administration of cholestyramine and beta-carotene transiently improved levels of porphyrins and liver function. The patient died of rupture of esophageal varices followed by multiple organ failure. However, the treatments were believed to have extended survival.

Reversion of hepatobiliary alterations by bone marrow transplantation in a murine model of erythropoietic protoporphyria

“…These histopathological findings are similar to those observed in human EPP with fatal liver failure. 15 To establish what the contribution of liver and bone marrow to the overproduction of protoporphyrin can be, the authors performed a series of experiments of normal bone marrow grafting in the Fech m1Pas /Fech m1Pas mouse. Replacement of the deficient bone marrow with normal cells dramatically reduced the accumulation of protoporphyrin (by 90%) as early as 4 weeks after grafting.…”

Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells

“…1,2,[4][5][6][7] The therapy of EPP is often limited to supportive care and is only partially successful, especially in the severe forms. This monogenic disorder starts early in infancy and represents a good candidate for gene therapy in severe forms since the genetic defect is well characterized at the molecular level.…”

Paralytic Ileus and Liver Failure—An Unusual Presentation of Advanced Erythropoietic Protoporphyria

“…In this disease, hepatic dysfunction is a critical outcome determinant [7,9,20,21]. Although hepatic dysfunction is detectable early in the course of EPP, these abnormalities seldom progress, and development of clinically evident liver dysfunction is rare.…”

“…However, a significant genotype-phenotype correlation between ''null allele'' mutations and protoporphyrin related liver disease has been found [22,24]. Also recessive inheritance seems to carry a higher risk of liver disease [26] as well as other genetic and acquired factors, such as alcohol abuse or chronic HCV infection [9,16,20,21]. In a recent report, male gender, anemia, total erythrocyte protoporphyrin, and low serum ferritin are all independently significantly associated with abnormal liver function [27].…”