Erythropoietic Protoporphyria (EPP) – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2023 To 2033
Erythropoietic protoporphyria is a genetic condition that affects heme production, which leads to the overproduction of protoporphyrin, majorly in the bone marrow. This condition leads to higher levels of the heme precursor excreted in the bile. In some cases, this disorder progresses to liver disease and eventually ends with liver transplantation. Since the bone marrow continues to produce excessive protoporphyrin after the transplant, the condition can recur in the transplanted liver. As a result, liver transplantation, while a potential treatment, tends to be a palliative measure rather than a cure due to the risk of recurrence. EPP can result from mutations of the ferrochelatase gene (FECH). Children develop pain, redness, swelling, pruritus, and a variety of hepatobiliary complications. The 5%–10% of subjects have an X-linked variant of EPP (termed XLPP) resulting from a gain-of-function mutation of the Alas2 gene.41 Mild microcytic anemia occurs in 20%–60% of patients with so