Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.

BACKGROUND: Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase. These mutations disrupt normal heme synthesis, leading to the accumulation of protoporphyrin in erythrocytes and other tissues. Clinical manifestations include cutaneous photosensitivity, characterized by burning and itching of the skin, and, less commonly, liver failure. CASE DESCRIPTION: A teenager presented with abdominal pain, distention, and jaundice, along with a history of suspected photosensitivity. Lab tests revealed abnormal liver enzymes. Imaging showed liver cirrhosis. Liver biopsy confirmed bile accumulation and protoporphyrin deposits. Genetic testing identified a complex heterozygous mutation in the FECH gene, leading to a diagnosis of EPP. RESULTS: The patient ultimately succumbed to complications arising from decompensated cirrhosis, specifically ruptured esophagogastric fundal varices and hepatorenal syndrome. We retrospectively reviewed 98 cases of EPP reported in English literature over the past decade (2014–2024). The overall mortality rate was 4.1% (4 patients). CONCLUSION: Patients diagnosed with EPP may exhibit hepatic dysfunction as their primary clinical manifestation. In the evaluation of the etiology of liver dysfunction, EPP, a rare genetic disorder, should be considered. This case report describes a novel mutation in the FECH gene located at chr18-55226418 (c.763G > T, exon 7), thereby contributing to the expanding spectrum of known FECH gene mutations.