ArticleACG case reports journal2025
Acute Protoporphyric Hepatopathy as the Initial Presentation of Erythropoietic Protoporphyria in Adulthood.
Article in ACG case reports journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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