Acute Protoporphyric Hepatopathy as the Initial Presentation of Erythropoietic Protoporphyria in Adulthood
Year: 2025
Type: article
Study design: Case Report
Abstract: Protoporphyric hepatopathy is a rare and serious sequalae of erythropoietic protoporphyria, a rare disorder of heme synthesis typically appearing in childhood. We describe a case of a 47-year-old woman who presented with acute generalized abdominal pain, jaundice, and vomiting. Laboratory tests showed acute liver injury, but further investigations and imaging were unremarkable. Subsequently, a liver biopsy was obtained, revealing signs of severe cholestasis and deposition of Maltese cross-positive material. Blood porphyrin level was >1,000 nmol/L (0-15 nmol/L). This rare initial presentation of erythropoietic protoporphyria highlights the importance of considering porphyria in acute liver injury, even in adults without dermatological symptoms.
Source: ACG Case Reports Journal
Authors: Tareq Alsaleh, Abdul Mohammed, Medha Karnam, Torfay Roman
Institutions: AdventHealth Orlando, University of Florida
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4416278133