Porphyria is derived from the Greek word “purple” and originally referred to the red to purple colour of the urine of affected patients. Porphyria is caused by a mutation in one or more genes required for heme (or haem) biosynthesis. The inability to properly synthesize heme results in an accumulation of porphyrin byproduct.

Approximately 1 in 50,000 has the disease. Porphyria can be inherited (genetic), meaning the condition is passed on from parent to child. In some instances, porphyria may arise sporadically as an acquired condition. This occurs as a result of infection or exposure to certain environmental factors affecting the same or similar enzymatic pathways involved in heme biosynthesis – porphyria cutanea tarda falls into this category.

To read more about porphyria, refer to the Porphyria page at the Genetics Home Reference website.

Types of porphyria

Below is a list of various porphyrias, distinct from one another in their type of enzymatic defect:

• ALAD Porphyria (ADP) or Plumboporphyria (PP)
• Acute Intermittent Porphyria (AIP)
• Congenital Porphyria (CEP)
• Porphyria Cutanea Tarda (PCT)
• Hepatoerythropoietic Porphyria (HEP)
• Hereditary Coproporphyria (HCP)
• Variegate Porphyria (VP)
• Erythropoietic Protoporphyria (EPP)

Symptoms for the porphyrias range from mild skin problems through to seizures, severe abdominal pain, vomiting and constipation. Some individuals experience no symptoms at all.

Sunlight and chemicals are the major factors in the display of symptoms.

More information

For more information about porphyria and its various forms, see this report in the New Zealand Medical Journal (Sept 2005).

Our support group also has a pamphlet available with more information. To download it, click here (PDF file; requires Acrobat Reader, which can be downloaded at this link).