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Discolouration and scarring of the skin are common symptoms of porphyria.

Discolouration and scarring of the skin are common symptoms of porphyria.
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Porphyria

2-minute read

Porphyria is a group of uncommon 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.

Porphyria types

There are many types of porphyria, with the 2 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.

Porphyria symptoms

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:

Porphyria diagnosis

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.

Porphyria treatment

Porphyryia can’t be cured, but there are many ways to manage and treat it.

You can:

Your doctor may also advise you about:

Visit the Porphyria Association website for more information about porphyria.

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Last reviewed: September 2019


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