Porphyria is a group of diseases caused by problems with red blood cells. The problems cause a build-up in the body of chemicals called porphyrins. Porphyria can cause a wide range of symptoms.
There are many types of porphyria, with the two most common being:
- cutaneous, mainly affecting skin
- acute, mainly affecting the neurological system.
Porphyria is usually inherited, but it can also occur without anyone else in the family having it.
The signs and symptoms of porphyria can vary, depending on the type and severity. Some people have no symptoms. Some go for long periods without any symptoms. Some people have quite a bit of trouble with symptoms.
The most common symptoms are:
- skin problems like sensitivity to the sun, blistering, discolouration and scarring
- abdominal pain
- muscle weakness
- numbness in the arms and legs
- confusion and seizures.
Because porphyria can cause so many different symptoms, it can be hard to diagnose. Your doctor can talk to you and examine you, and will probably want to arrange urine or blood tests as well.
Genetic tests can be useful, too.
There are plenty of ways to treat porphyria.
- avoid any drugs that may trigger an attack – check the list at the Porphyria Association Australia
- avoid alcohol
- protect your skin from the sun as much as possible
- eat carbohydrates frequently
- avoid strict diets.
Your doctor may also advise you about:
- medication to control pain, or any nausea or vomiting
- other medication to reduce the amount of porphyrin in the blood
- regular blood donation or blood-letting to reduce the amount of porphyrin in the blood.
Visit the Porphyria Association website for more information about porphyria.
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Last reviewed: August 2017