Porphyria

What is porphyria?

Porphyrins are chemical compounds that contribute to the formation of heme in humans, which is associated with hemoglobin and healthy red blood cell production in the body.  These compounds are also involved in the formation of chlorophyll in plants.  They are responsible for the fact that “blood is red, and grass is green”. 

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 and this results in abdominal pain and weakness.  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 such as hepatitis C, 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?

Most treatments are targeted towards relieving symptoms of acute forms of porphyria, which include analgesics (e.g. opiates, aspirin) for pain, cardiovascular drugs (beta blockers) for high blood pressure or heart dysrhythmias, drugs to reduce anxiety (e.g. lorazepam), antiemetic drugs (e.g. promazine, chlorpromazine) to prevent vomiting, anticonvulsants (e.g. diazepam, clonazepam) for convulsions, phlebotomies (blood letting) for iron overload, and adequate intake of calories to reduce the intensity of acute attacks.

For more information on porphyria or any other form of liver disease, please contact us.

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