Acute on chronic liver failure in erythropoietic protoporphyria: A case report and review of the literature.

Erythropoietic protoporphyria (EPP) is a disease caused by an inborn error of heme biosynthesis. It manifests as painful photosensitivity in childhood. Liver disease occurs due to the deposition of protoporphyrin. Cholestasis due to protoporphyrin leads to a vicious cycle of worsening, which can lead to liver failure. A 29-year-old woman presented with a three-month history of intermittent low-grade fever and a one-month history of jaundice. She had a history of painful blisters over the skin in childhood that started at two years of age and progressed to multiple contractures from healed ulcers by five years of age. She also had splenomegaly on examination. Her blood tests showed pancytopenia, hyperbilirubinemia, and elevated liver enzymes. Tropical fever workup was negative. Autoimmune hepatitis was considered, as antinuclear antibodies (ANA) were positive with elevated immunoglobulin G (IgG). Skin biopsy showed features suggestive of lipoid proteinosis. However, on review with Periodic Acid-Schiff-diastase (PAS-D) staining, a close mimic, EPP was considered a possibility. Liver biopsy showed features of EPP with infiltration with refractile brown pigment showing bright-red birefringence on polarizing microscopy. Next-generation sequencing (NGS) confirmed EPP with a ferrochelatase enzyme coding gene mutation. The patient developed pneumonia during hospitalization and developed acute on chronic liver failure (ACLF) grade 3a, as defined by the European Association for the Study of the Liver (EASL), with ascites and encephalopathy. She was treated with photoprotective measures, ursodeoxycholic acid, antibiotics, and supportive care. The family was counseled regarding options for sequential hepatic and bone marrow transplants. She was managed with the best supportive care.