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@article{206890,
        author = {A Mary and Dr.Ananthram H and Dr.K Venkata Nagendra},
        title = {CLINICAL AND PATHOLOGICAL CHARACTERISTICS OF ERYTHROPOIETIC PROTOPORPHYRIA (EPP): A REVIEW},
        journal = {International Journal of Innovative Research in Technology},
        year = {2026},
        volume = {13},
        number = {2},
        pages = {3039-3043},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=206890},
        abstract = {Erythropoietic Protoporphyria (EPP) is an ultra-rare inborn error of heme biosynthesis inherited as an autosomal pseudo-dominant or recessive trait, characterized by a profound deficiency in the ferrochelatase (FECH) enzyme. This enzymatic bottleneck leads to the pathological accumulation of hydrophobic protoporphyrin IX (PPIX) within erythrocytes, plasma, and vascular endothelium, which, upon exposure to visible light within the Soret band (400–410 nm), triggers a phototoxic reaction that generates singlet oxygen radicals and induces debilitating, burning skin pain without visible blistering. To evaluate the clinical, biochemical, and therapeutic trajectories of this metabolic disorder, this study utilized a retrospective cohort design tracking 50 symptomatic EPP patients over a 24-month longitudinal period, monitoring total erythrocyte PPIX fractionation, serum liver panels, and patient-reported sunlight tolerance. Laboratory diagnostics confirmed severe metabolic blocks with a mean metal-free erythrocyte PPIX level of 3,450 mcg/dL, while longitudinal clinical tracking revealed that the administration of the melanocortin receptor agonist Afamelanotide significantly extended median pain-free sunlight exposure from a baseline of 12 minutes to 74 minutes (p < 0.001). Furthermore, while urinary porphyrins remained entirely within normal biological boundaries, 16% of the cohort demonstrated elevated serum transaminases, highlighting the systemic risk of PPIX-induced cholestatic liver damage. Ultimately, this study demonstrates that early genetic and biochemical screening significantly mitigates extensive diagnostic delays, preventing chronic dermal scarring and allowing for proactive hepatic monitoring to intercept subclinical biliary crystallization before it accelerates into irreversible cirrhosis or acute hepatic failure.},
        keywords = {Erythropoietic Protoporphyria, Ferrochelatase (FECH), Protoporphyrin IX, Phototoxicity, Soret Band and Cholestasis},
        month = {July},
        }