Liver Involvement in Erythropetic Protoporphyria

A 19-year-old man presented with painless jaundice for 3 months. He had a 14-year history of recurrent, photosensitive, painful rashes without blistering on exposed areas of the face and hands. Examination revealed icterus, hyperpigmentation, hyperkeratosis, and leathery texture over affected hands with onyncholysis, loss of lunulae, melanonychia, and firm hepatosplenomegaly (Figure 1). Laboratory tests revealed anemia with red blood cell hypochromasia and thrombocytopenia. There was evidence of advanced liver disease with marked hyperbilirubinemia, elevated INR, and hypoalbuminemia. Plasma and fecal protoporphyrin levels were elevated. Liver histopathology revealed portal tracts with mixed inflammatory infiltrates and brown-colored bile-laden macrophages with portal fibrosis and hepatocytes with aggregated cellular and canalicular brownish red-colored bile deposits (Figure 2). Red birefringence and clusters of brilliantly illuminated granules in a Maltese cross pattern on polarized light were also visible (Figure 3). Erythropoietic protoporphyria (EPP) diagnosis was made. The patient progressed liver failure at 8 weeks’ follow-up, and is awaiting liver transplantation.