What is Porphyria?

The porphyrias are a collection of disorders of haem synthesis, each resulting from a separate enzyme deficiency in the pathway.

• Broadly, the build up of haem precursors cause neuro-visceral problems and /or skin reactivity to light.
• Active Porphyria is extremely painful and can be very debilitating.
• The porphyrias can become progressive degenerative disorders.
• Currently the main aim is prevention strategies to keep them latent.
• Once triggered an episode can escalate into a biofeedback loop causing toxic build up of porphyrins.
• Porphyria has been mistaken for: somatisation disorders, Guillain Barre, growing pains, eczema, epilepsy, MS, dermatology, depression, acute appendicitis, chronic fatigue, Parkinson's, Irritable Bowel syndrome and many, many more.

Currently European information on Porphyria seems to be much more applicable in Australia than much or most of the US internet info.

As well as Australian publications, directly relevant to us, is information from Porphyria-Europe, the European initiative, with contributions from all over Europe including the London, Kings College Hospital team. These have publications in the Lancet and the British Medical Journal and other reliable literature. The safe and unsafe Medications for acute Porphyria updated list from Sweden applies. Only the US calls Porphyria "rare", whether this has under-diagnosis or other causes is unknown here.

We have cited some journal articles (on these pages) that have shown to be generally applicable, whose information is backed up and seems to hold up in practice.

A list of Safe/Unsafe drugs can be found via the menu on the left.

For more ideas or information on relevant journal articles on Porphyria: e-mail porphyria@mssociety.com.au
or telephone: (03) 9845 2737