Autosomal erythropoietic protoporphyria

Erythropoietic protoporphyria is characterized by abnormally high levels of protoporphyrin IX in red blood cells (erythrocytes) and plasma (the fluid part of circulating blood), and by sensitivity to visible light. It is usually first noticed during early childhood and occurs throughout life. Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight - even sunlight that passes through a window. The symptoms usually resolve within 12 to 24 hours and heal without significant scarring. In many individuals, the symptoms worsen during the summer months. We were unable to find any information to indicate that skin symptoms grow worse over time.^[1]

Some individuals with erythropoietic protoporphyria may develop gallstones that contain protoporphyrin. In a small number of cases (5%), high levels of protoporphyrin can lead to liver damage which may progress to a point where transplantation may be necessary.^[1][2]

In the absence of liver failure, people with erythropoietic protoporphyria have normal life expectancies.^[2] It is recommended to check the levels of the  erythrocyte protoporphyrin (free and zinc-chelated), hematologic indices, and iron profile once a year. Liver function should also be monitored every six to 12 months. Vitamin D 25-OH levels should be monitored in all patients whether or not they are receiving supplements.^[3]