Overview: What is Porphyria
Porphyrias are a collection of rare metabolic disorders that influence how the body assembles a substance called “heme”. Heme is an iron-containing compound within red blood cells. It has many important functions in the body including: making the blood the colour red and it also helps to transfer oxygen throughout the body. Individuals with porphyria have a build-up of chemicals called “porphyrins” that can accumulate within the body and cause symptoms. The prevalence rates of porphyrias vary from 0.5 to 10 per 100,000 individuals. It occurs in all races and in both sexes.
There are approximately 8 separate types of porphyria. A majority of them originate from abnormal genes that are passed down families. However, it is possible to be the first person in your family to develop porphyria. The common variants of porphyria are:
- Porphyria cutanea tarda (PCT)
- Acute intermittent porphyria (AIP)
- Erythropoietic protoporphyria (EPP)