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Erythropoietic protoporphyria



Erythropoietic protoporphyria Causes


Over exposure to the ultraviolet rays of the sun is known to be a cause of this disorder.


Erythropoietic protoporphyria Definition


Erythropoietic protoporphyria is a rather mild type or form of a porphyria , although it is very painful. This condition arises because of a deficiency in the human ferrochelatase enzyme. The deficiency then leads to abnormal often very high levels of protoporphyrin present in the tissue. The extent of the condition significantly varies from one person to another.


Erythropoietic protoporphyria Diagnosis


Physical examination of the patient will help in the diagnosis of this disorder as well as information about the patient's medical history


Erythropoietic protoporphyria Symptoms and Signs


Erythropoietic protoporphyria often is associated with the most common symptom which is a very painful photosensitivity, which is presented as a burning sensation on the surface of the skin. This usually first presents in childhood, and affects the face as swell as the upper surfaces of the hands and the feet most of the time. A very prolonged exposure to the heat of the sun can cause edema and blistering.


Erythropoietic protoporphyria Treatment


There is no known cure for this condition, however, management of the symptoms can be done usually by simply limiting sun exposure. Wearing protective clothing can also be very helpful. But because the photosensitivity is cause by light in the visible spectrum, most sunscreens except substances that reflects light like zinc oxide are not so much use. Some people decrease sun sensitivity by getting a daily doses of beta carotene while other people gradually build up a protective layer of melanin through a regular exposure for only short time to the ultraviolet rays of the sun. In very severe cases, patients are at times surgicaly treated with liver transplants.


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