Erythropoietic Protoporphyria - Symptoms & Treatment

Erythropoietic protoporphyria is a comparatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to unusually high levels of protoporphyrin in the tissue. The intensity varies significantly from individual to individual. Both autosomal dominant and autosomal recessive heritage have been reported with this disorder.

In about 2% of patients, overt illness was lately shown to be caused by gain-of-function mutations in the erythroid particular aminolevulinic acid synthase 2 (ALAS2/ALAS, EC 2.3.1.27) gene and named X-linked dominant protoporphyria. In EPP there is photosensitivity but no "rash" only an exaggerated sunburn reaction that appears much earlier than common sunburn erythema. Also, the skin changes occur behind window glass. Lastly, there are practically no photosensitivity disorders in which the symptoms appear so rapidly (minutes after exposure to sunlight). Porphyrin examination establishes the diagnosis with elevated gratis protoporphyrin levels in the RBCs and in the stool. The fecal protoporphyrin is most constantly elevated. The urinary porphyrins are not elevated. In chronic cases, the waxy thickening and wrinkling of facial skin is diagnostic.

Symptoms of Erythropoietic Protoporphyria

Erythropoietic protoporphyria is a subtype of porphyria. This type of porphyria causes the skin to be overly sentient to sunlight. Beginning in infancy, areas of skin exposed to the sun (specifically the face and hands) grow itching, stinging, and burning that lasts for hours to days after exposure. The skin becomes red and swollen in a few cases, but typically heals without scarring. These signs and symptoms are often milder than the skin injure seen in other types of porphyria. No factors other than sun exposure are known to start symptoms. A few people with erythropoietic protoporphyria have gallstones start at an early age. A minority of people with this condition develop liver injure that can be severe other life-threatening. Some sign and symptoms related to Erythropoietic Protoporphyria are as follows:

• Swelling, burning, itching, and redness of skin are the ordinary symptoms of erythropoietic protoporphyria.
• There may be also blistering and scarring can occurs on skin of the body.

Erythropoietic Protoporphyria Treatment

• There is no any specific cure for this disease.
• Beta-carotene, when taken in adequate amounts to cause slight yellowing of the skin.
• Liver transplantation treatment is use in a few patients.
•  Do not harshly curtail carbohydrate intake.
• Sun-protective clothing, hats, and bodily sunscreens should be used during daily activities.
• Use of sunscreen lotions containing zinc oxide other titanium dioxide and suitable clothing is essential to defend from sunlight.