Erythropoietic protoporphyria. A clinical study based on 29 cases in 14 families

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

“…Mild abnormal liver function tests are common in EPP, but hepatic failure is a rare complication with an incidence between 0% and 16%. 3,[32][33][34][35] However, when biliary secretion, the only route for protoporphyrin, does not keep pace with protoporphyrin production in the bone marrow or liver, progressive accumulation of protoporphyrin occurs, leading to cellular damage, cirrhosis, and rapidly to liver failure. There are 2 main reasons for the alterations of the hepatobiliary system: one is the actual toxicity resulting from the hepatic accumulation of porphyrins, as shown by abnormal liver tests and nonspecific histological alterations such as excess of fat deposition with some degree of fibrosis, sometimes progressing to cirrhosis.…”

Association of Porphyria Cutanea Tarda and Primary Liver Cancer: Report of Ten Cases

“…The cause of the association between PCT protoporphyria (27) and protoporphyrin removal may prevent progression of portal fibrosis (28). Recent experimental studies (29) have shown that protoporphyrin accumulated in the cytosol of isolated rat liver cells may have detrimental effects on the structural and functional integrity of the mitochondria.…”

New mutation identified in two sisters with adult-onset erythropoietic protoporphyria

“…4,[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] Of these, 10 have been associated with blood dyscrasias, predominantly sideroblastic anaemia and are considered to be acquired, somatic disease, [8][9][10][11][12][13][14][15][16][17] while the other seven cases did not have dyscrasias. 4,[18][19][20][21][22][23] In only one of these cases was a germline genetic cause confidently assigned: a white woman with onset of symptoms in her forties was found to be heterozygous for the P334L FECH mutation in trans with the IVS3-48C allele. 22 The same genotype was found in her asymptomatic 45-year-old sister.…”