What is erythropoietic protoporphyria?
erythropoietic protoporphyry is a genetic disorder that predisposes people to extreme sensitivity to sunlight. The condition causes the exposed skin irritated, inflamed, swollen and painful. Blisters and permanent scars can evolve on hands or face. In addition, some children and adults with erythropoietic protoporphyry suffer from a potentially serious complication of the gallbladder and liver. There is no clear cure for disorder, but taking steps to minimize sunlight and accepting regular medical controls can reduce the risks of serious health problems.
The decade of genetic research has revealed the basic cause of erythropoietic protoporphyria. The inheritable mutation deteriorates the function of the enzyme called ferrochetase, which usually helps to build hemoglobin and other components of blood. Abnormal enzymes result in the accumulation of protoporphyrine in the bone marrow, bloodstream and body tissue. Protoporphyrin is extremely sensitive to light and accumulates near the cfis triggering inflammation when the body is stoodAveno to sunlight.
When a person with erythropoietic protoporphyria spends a short time in the sun, his skin can feel itchy and tender. Spend more than about one hour outside can cause redness, swelling and painful burning feelings. The longer a person remains in the sun, the worse the symptoms tend to happen. Several prolonged periods of sunlight exposure can cause blisters and open lesions that eventually become scars.
A small number of people with erythropoietic protoporphyria develops problems with jathers. Protoporphyrin can accumulate in bile and hepatic tissue, which can lead to gallstones or less hepatitis. Any liver failure is possible unless the underlying condition is diagnosed and treated correctly.
The physician may diagnose erythropoietic protoporphyry by careful evaluation of symptoms and the design of blood and bile series. If they are found unusually inY -acoustic levels of protoporphyrin, other problems such as eczema, allergies and lupus can be eliminated. Ultrasound and X -rays can also be performed if the doctor has suspected liver damage or bile stones.
Prevention of excessive exposure to sunlight is a key part of the treatment of erythropoietic protoporphyria. Patients are instructed to wear protective clothing, apply sunscreen and reduce the time they spend outside. In addition, they may be encouraged to color the windows of their cars and home to further prevent exposure. Local drugs that could be used to reduce the sensitivity to light may be prescribed to alleviate itching and combustion of symptoms such as beta-carotene.
If the patient has bile stones or other complications of the liver, it may be necessary to repair the problem and restore normal functioning the necessary surgery. Most people after surgical care can recover from acute problems with jathers, but there are risks that stones do not zoom tissue can be in the futurereturn. Regular checks are important to ensure that the symptoms are captured before they become serious.