Congenital Erythropoietic Porphyria (CEP)

 
Congenit erytropoietic porphyria, (Gunther´s Disease) is a seldom, genetic disease. It is said that there are only approximately 100 patients in the world suffering from CEP. It is concerning about a reduced function of the enzyme uroporphyrinogen III cocynthase.

The symptoms start early in the childhood, yet sometimes already during the embryonic stage when the embryo might have suffered from anaemia. The porphyrin is in the marrow, the blood, the urine and in the stool. The body reacts very photosensitive, and there will be itching skin, blisters, scars and increased growth of hair. Often the blisters are infected. The urine turns orange and the teeth may get a dark red colour. Often anaemia will be a problem. Problems with the eyes might turn up.

The treatment is blood transfusion and some times removal of the spleen. Activated carbon as tablets may have an effect by “picking up” the porphyrin in the gut. Transplantation of the bone marrow has proved to be helpfull.

You ought to consult your doctor if you have the symptoms of CEP and need treatment.

Prophylaxis: It is important to avoid the light. It is therefore necessary to put on specially made light filters on the windows of the house and the car, and only use common 40 watts filament bulbs.
Protecting the skin by clothes made from thick cotton fabrics such as denim or especially developed fabrics which protect against the light, are recommendable like big hats and gloves.
Special sun-lotion, containing zinc and titandioxide, protects against the rays of light.

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