Erythropoietic protoporphyria is a condition characterized by sensitivity to sunlight.
Erythropoietic protoporphyria is uncommon. It usually appears in childhood.
In most people with erythropoietic protoporphyria, a deficiency of the enzyme ferrochelatase leads to accumulation of the heme precursor protoporphyrin in the bone marrow, red blood cells, blood plasma (the liquid component of blood), skin, and eventually liver. The enzyme deficiency is inherited from one parent, but in order to develop the disorder people must also inherit a slightly abnormal gene for the enzyme from the other parent. About 10% of people with erythropoietic protoporphyria have increased activity of a different enzyme. The increased activity leads to accumulation of the same heme precursor. However, the abnormal gene for this form of erythropoietic protoporphyria is carried on the X-chromosome (see see Inheritance of Single-Gene Disorders), and thus the disorder occurs mainly in boys.
Accumulation of protoporphyrin in the skin results in extreme sensitivity to sunlight and severe pain after exposure. The sunlight activates the protoporphyrin molecules, which damage the surrounding tissue. Accumulation of protoporphyrins in the liver can cause liver damage. Protoporphyrins excreted in the bile can lead to bile stones.
Symptoms and Diagnosis
Symptoms usually start in childhood. Severe skin pain and swelling develop soon after even brief exposure to sunlight. Because blistering and scarring do not occur, doctors usually do not recognize the disorder. Gallstones cause characteristic abdominal pain (see Gallstones). Liver damage may lead to increasing liver failure, with jaundice, abdominal pain, and enlargement of the spleen.
Porphyrin levels in urine are not usually increased. The diagnosis is therefore made when increased levels of protoporphyrin are detected in red blood cells.
Genetic testing may be done. Family members may also be tested to determine whether they also have the gene mutation.
Extreme care should be taken to avoid exposure to sunlight. People should use protective clothing, hats, and light-opaque sunscreens containing titanium dioxide or zinc oxide. Accidental sun exposure is given the same treatment as is sunburn (see Sunburn). Beta-carotene, when taken in sufficient amounts to cause a slight protective yellowing of the skin, may make people more tolerant of sunlight. Several other drugs that may help people tolerate sunlight are being tested. However, sunlight should still be avoided.
Drugs that trigger acute porphyrias do not cause erythropoietic protoporphyria and need not be avoided.
Acute skin symptoms can be alleviated by cold baths or wet towels, analgesics, and topical and/or oral corticosteroids. Symptoms can take up to a week to resolve. If these measures are ineffective, doctors sometimes give hematin and/or blood transfusions.
People who develop gallstones that contain protoporphyrin may need to have them surgically removed. Porphyrin accumulation in red blood cells and the condition of the liver should be monitored yearly by testing blood, urine, and stool samples. Liver damage, if severe, may necessitate liver transplantation.
Last full review/revision June 2013 by Herbert L. Bonkovsky, MD; Vinaya Maddukuri, MD