Erythropoietic Protoporphyria: Most Effective Supplements

Erythropoietic protoporphyria (EPP) is a rare metabolic disorder, first described in 1961, which belongs to the family of porphyrias. It is characterized by a partial deficiency in ferrochelatase, an essential enzyme in heme synthesis. This deficiency leads to an accumulation of protoporphyrin IX in red blood cells, liver, skin, and other tissues, causing heightened sensitivity to sunlight. The main clinical manifestations include painful photosensitivity.

Pathophysiology

EPP is generally due to an autosomal dominant mutation of 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, induces 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 manifest from childhood as severe photosensitivity. After a short sun exposure, 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 lead to hepatic pathologies. About 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

The treatment primarily involves photoprotection measures, such as avoiding sunlight and using carotenoids (beta-carotene) to reduce photosensitivity. Other options include narrow-band UVB phototherapy, which stimulates melanin synthesis, and the administration of cholestyramine or activated charcoal for liver complications. In cases of cirrhosis, liver transplantation may be considered.