Complete Information on Erythropoietic protoporphyria with Treatment and Prevention

Erythropoietic protoporphyria (EPP) is a group's member disease calls porphyrias. The protoporphyria of erythropoietic usually begins in infancy, even if there is a shape of in delay-beginning that in the first place happens when the person is an adult. Infants who are affected by EPP often scream soon after being taken out into the sun. Protoporphyrin is a lipophilic molecule capable of transformation to excited states by absorption of light energy. Excess protoporphyrin is formed during maturation of erythroid cells in the bone marrow and is present at the highest levels in reticulocytes and young erythrocytes. Protoporphyrin escapes from red blood cells into the plasma, from which it is cleared by the liver and secreted into bile. Both males and females are affected and there is sometimes a family history. People of all races may get EPP. Both males and females are equally affected.

One kind of common symptom is extremely painful photosensitive, manifests takes burning the feeling in the skin surface. This usually first present in childhood, and generally affects the face and the suction faces of the hands and the feet. People with erythropoietic protoporphyria are also at increased risk to develop gallstones. In a small percentage of cases, protoporphyrin accumulates to toxic levels in the liver, leading to liver failure. Liver damage may lead to increasing liver failure, with jaundice and enlargement of the spleen. The affected skin may become red and swollen and blistered. Later there are pitted scars and sometimes crusty thickened skin, particularly over the cheeks, nose and knuckles of the hands.

There is no cure for this disorder, however, symptoms can usually be managed by the simple expedient of limiting sun exposure. For protoporphyria uncomplicated by hepatobiliary disease, the major problem is lifelong cutaneous photosensitivity. Anemia, if present, typically is mild and rarely requires specific therapy. Frequently, the painful swelling of the skin may be relieved by cooling the affected areas in cold water. Often the visible changes to the skin are mild and more noticeable in those living in sunnier climates. Some individuals can decrease their sun sensitivity with daily doses of beta carotene, others gradually build a protective layer of melanin by regularly exposing themselves for short times to ultraviolet radiation. The most severe cases are sometimes treated with liver transplants. Liver dysfunction is an ominous development for which medical remedies are not consistently effective.