Members learn about Porphyria

• The porphyrias are a group of relatively rare genetic disorders.
• They are called the porphyrias because they cause a build up of chemicals called porphyrins (or the simpler chemicals used by the body to make porphyrins).
• The porphyrias are broadly categorised into acute and cutaneous (skin), according to the symptoms suffered.
• The severity of symptoms varies dramatically in all types of porphyria, but no matter which type, the more knowledgeable about their condition a patient is, the more they are likely to stay well.

The skin porphyrias (PCT, EPP, XLEPP and CEP) cause sensitivity to sunlight on exposed areas of skin. Sunlight should be avoided as much as possible.

Members learnt that EPP is a less common form of porphyria. Like the acute porphyrias, it is an inherited disorder. There are a variety of genetically different forms of EPP – the autosomal recessive form makes up 97% of cases, and there is also the X-linked form: XLEPP. 

Sunlight does not always need to be direct – light reflected off water, sand or snow, or passing through window glass may also cause symptoms. EPP is different from the other cutaneous porphyrias as it doesn’t cause blistering. In bright light, the skin becomes very painful but there is usually little to see.

There is no easy treatment. It is mostly a matter of avoiding bright light.

For more information please visit the British Porphyria Association website at http://www.porphyria.org.uk/