Porphyria is underdiagnosed

This article submitted by Mariel on 10/18/97.
Email Address: rowina@earthlink.net

Porphyria is a disease (actually a group of related diseases) stemming from a defect in the heme synthesis pathway in the liver. Some porphyrias affect the nervous system and a wide range of organs, while others affect skin, and others affect both nervous system and skin. Usually Poprhyria is inherited (50% of offspring have it) but there is an increasing category of "acquired porphyria" due to toxic spills and sprays.

Many symptoms seen in other neurological diseases are seen in porphyrias which affect the nervous system, such as Acute Intermittent Porphyria and Variegate Porphyria. The main presenting symptom, however, which may distinguish some porphyrias from other neuro illnesses, is gastric pain. Often the gastric pain cannot be diagnosed, and the person is written off as neurotic.

Porphyria is often activated in a susceptible person by many drugs, including prescriptions drugs, such as many antibiotics, hormones, antidepressants, and pain killers. . Sunlight can activate porphyria, especially in the skin-affected. A severe porphyric attack can cause paralysis and inability to breathe well, so it is important to be diagnosed however difficult this may be. See the American Porphyria Foundation website for further information.

There is a new suspected illness, Hereditary Biochemical MS, in which Multiple Sclerosis results from untreated porphyria in a genetically susceptible population. A "new" porphyria was discovered in the l980's. New knowledge about this old disease is being found every day, and it is about time! The royal families of Europe have many members with porphyria, such as James I of England and Mary Stuart--and some of their living descendents. If you have porphyria you could be royal-- long way from the originals, of course!

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