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What is porphyria?

Porphyrins are chemical compounds that are stepping stones along the pathway which leads to the formation of heme in humans and to chlorophyll in plants. They are responsible for the fact that “blood is red and grass is green”. Heme is essential if the body is to work properly.

In porphyria, the cells do not convert porphyrins to heme in a normal manner. Because of this, porphyrins are excreted in the urine and stool in excessive amounts. When present in very high levels, they cause the urine to have a distinct port wine colour.

What are the symptoms of porphyria?

The symptoms of porphyria fall into two major groups. Some patients have attacks in which the nerves of the body do not function properly. Abdominal pain and weakness result. Other patients have problems with the parts of the skin that are exposed to the sun, including pain and swelling of the skin or the formation of blisters.

The disease can appear in childhood but the onset most frequently occurs between the ages of 20 and 40. The disease affects men less often than women, in whom attacks are related to the menstrual cycle. Long latent periods may separate these attacks which can be precipitated by drugs, infections, alcohol consumption and dieting.

How is porphyria diagnosed?

Proper diagnosis of porphyria depends on chemical studies of the blood, urine and stool. Since porphyria is a genetic disease, studies should also be done on children and blood relatives of affected individuals.

How is porphyria treated?

Some treatments are available for symptoms of porphyria.