Erythropoietic protoporphyria: the most effective dietary supplements

Erythropoietic protoporphyria (EPP) is a rare metabolic disease, first described in 1961, that belongs to the porphyria family. It is characterized by a partial deficiency of ferrochelatase, an enzyme essential in heme synthesis. This deficiency leads to an accumulation of protoporphyrin IX in red blood cells, the liver, the skin and other tissues, causing increased sensitivity to sunlight. Clinical manifestations mainly include painful photosensitivity.

Pathophysiology

EPP is generally due to an autosomal dominant mutation in the FECH gene, located on chromosome 18. This gene encodes ferrochelatase, an enzyme that catalyzes the incorporation of iron into protoporphyrin IX to form heme. The accumulation of protoporphyrin, especially in red blood cells and fibroblasts, provokes phototoxic reactions when the skin is exposed to sunlight due to the formation of free radicals.

Symptoms

The main symptoms of EPP are cutaneous and present from childhood as severe photosensitivity. After a short exposure to sunlight, patients may experience burning and develop edema on photoexposed areas, accompanied by intense pain. Vesiculobullous lesions or skin thickening may also appear over time. Contact with cold water can temporarily relieve the pain.

Complications

EPP is generally a benign disease, but in some cases it can be complicated by liver disorders. Approximately 25% of patients may develop cholestasis or gallstones. In 1 to 2% of cases, the disease can progress to biliary cirrhosis, sometimes fatal in the absence of liver transplantation. Neurological or ocular involvement has also been described, although rare.

Treatment

Treatment is mainly based on photoprotection measures, such as avoiding sunlight and using carotenoids (beta-carotene) to reduce photosensitivity. Other options include narrowband UVB phototherapy, which stimulates melanin synthesis, and administration of cholestyramine or activated charcoal for hepatic complications. In cases of cirrhosis, liver transplantation may be considered.