Summary

• Porphyria is a group of diseases caused by problems with red blood cells that lead to a build-up in the body of chemicals called porphyrins.
• Porphyria is uncommon, and is divided into 2 categories — acute porphyria, which affects the neurological (nerve) system and cutaneous porphyria, which affects the skin.
• Porphyria is usually inherited, but can also occur without anyone else in the family having it.
• Because porphyria can cause so many different symptoms, it can be hard to diagnose.
• Porphyria can’t be cured, but there are many ways to manage and treat it.

These key facts are from healthdirect.gov.au (accessed 29 Jan 2025). Visit the healthdirect website for more information about porphyria.

Relevant Tests

If your doctor suspects you have porphyria, they may request one or more tests.

If you are diagnosed with porphyria, some of these tests will be used to monitor and manage your condition.

Find information about specific tests:

• Porphyrins