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Henrie's Recipes
Porphyria
Posted Tue, 30 May 2000
Question
Please may I have some information on porphyria?
Answer
Porphyria describes a number of different conditions, usually genetic, in which there is a disturbance in the metabolism of heme, the molecule which is carried in haemoglobin (which transports oxygen in our blood) and is also involved with various enzymes.
The clinical symptoms of the different types are all similar and involve intermittent attacks of nervous system problems and/or sensitivity of the skin to sunlight.
The nervous system problems are often precipitated by drugs such as barbiturates and the symptoms are severe abdominal pain, mental disturbance and problems with feeling in the legs and feet (peripheral neuropathy).
The most common type in South Africa is Variegate Porphyria, where its incidence is 1 in 400 in the white population. It originated in this country from a single woman who arrived from the Netherlands in 1688.
Variegate Porphyria is characterised by attacks of abdominal pain and mental disturbance and skin reactions with exposure to the sun.
It is diagnosed by identifying certain molecules called porphyrins in the urine.
Treatment of acute attacks is generally with glucose and sometimes with infusions of haematin.
Sun exposure should be avoided, or if that is impossible, hats, gloves and long sleeved shirts should be worn. Sunscreens are not all that effective.
Generally patients with porphyria should avoid alcohol in excess, prolonged fasting, steroids and certain other drugs.
There is no cure.
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