Liver and intrahepatic bile ducts-nontumor - Erythropoietic protoporphyria

Home Chapter Home Jobs Conferences Fellowships Books

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.

General
=========================================================================

● 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)

Diagrams
=========================================================================

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

This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com with any questions (click here for other contact information).