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Liver and intrahepatic bile ducts-nontumor

Metabolic diseases

Erythropoietic protoporphyria

Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 23 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.


● Excess production of free protoporphyrin from the bone marrow, most commonly due to deficiency of the enzyme ferrochelatase; causes characteristic cutaneous photosensitivity, and in a minority of patients leads to end-stage liver disease necessitating liver transplantation (J Inherit Metab Dis 2011;34:539, World J Gastroenterol 2010;16:4526)
● Paracrystalin protoporphyrin deposition in hepatocytes and precipitation in the biliary canaliculi
● Prognosis depends on extent of liver disease (Orphanet J Rare Dis 2009 Sep 10;4:19)


Heme biosynthetic pathway

Gross images

Explanted liver

Micro description

● Deep brown colored bile in canaliculi, bile ducts and Kupffer cells with red “Maltese cross” under polarized light

Micro images

Birefringence of pigment deposits due to protoporphyrin crystals

Diffuse dark discoloration and micronodular cirrhosis

Electron microscopy description

● Star-burst crystalline array

End of Liver and intrahepatic bile ducts-nontumor > Metabolic diseases > Erythropoietic protoporphyria

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