Liver disease in erythropoietic protoporphyria: insights and implications for management

The role for BMT in erythropoietic protoporphyria

“…It is presently not possible to identify patients at risk for severe liver disease. Postulated prognostic risk factors 7,9 are hampered by inconsistent evidence, but with vigilant surveillance programs, 9,10 progressive fibrosis might be possible to detect in time.…”

Porfyrisykdommer i Norge

“…With most of the porphyrias, it is possible to prevent attacks or relapses. With correct treatment and follow-up, many patients may therefore remain free of symptoms for most of their lives, and complications such as hypertension, renal failure, hepatocellular carcinoma in patients with acute porphyrias (19,20) and liver failure in erythropoietic protoporphyria (21) can be detected early.…”

Eryhtropoietic Protoporphyria

“…2,9 Excess PP with any origin is excreted by the liver into bile and enters an enterohepatic circulation. 10 Excess PP becomes insoluble in bile and exerts cholestatic effects, structural changes from mild inflammation to fibrosis and cirrhosis. 10 Liver diseases include cholelithiasis, gallstones, biochemical abnormalities (aspartate amino transferase (AST), alanine amino transferase (ALT), gamma-glutamyl transpeptidase (gamma-GTP), alkaline phosphatase (ALP)), cirrhosis, and terminal liver failure.…”

“…10 Excess PP becomes insoluble in bile and exerts cholestatic effects, structural changes from mild inflammation to fibrosis and cirrhosis. 10 Liver diseases include cholelithiasis, gallstones, biochemical abnormalities (aspartate amino transferase (AST), alanine amino transferase (ALT), gamma-glutamyl transpeptidase (gamma-GTP), alkaline phosphatase (ALP)), cirrhosis, and terminal liver failure. PP deposition in hepatocytes is invariable, whereas histological evidence of damage is less common; electron microscopy shows ultrastructural damage in most patients with EPP .10…”