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Porphyria Educational Services

Vol. 1 No. 41 October  3, 1999
FOCUS:  Porphyria:  A Basic Overview

Porphyrins are chemical compounds that are stepping stones along the pathway
which leads to the formation of heme in man, 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. And heme has everything
to do with porphyrins and porphyria.

In porphyria, the cells do not convert porphyrins to heme in a normal manner.
Because of this, porphyrins build up in the body and are excreted in the
urine and stool in excessive amounts. When present in very high levels, they
cause the urine to often have a spectacular port wine color, however the
shades of urine coloring differ with each individual due to a number of other
factors including dietary and drug intake. In all cases the urine of a porphyric
will turn darker when the urine is left in air and light.

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 and can cause pain and swelling of the skin
or the formation of blisters. Treatment is available for both types of
symptoms. Some patients because of the type of porphyria they have will
experience both types of symptomology.

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 thanwomen,
in whom attacks are related to the cyclic nature. Long latent periods which
are called remission, may separate these attacks, which can be precipitated
by drugs, chemical toxins, infections, alcohol consumption and dieting or
low carbohydrate intake.

Proper diagnosis and treatment of porphyria depends on chemical studies of
the blood, urine and stool. Since certain types of porphyria are genetic
diseases, studies should also be done on children and blood relatives of
affected individuals