The Different Types of Porphyria in South Africa
There are seven types of porphyria, each differing slightly according to the specific enzyme which is defective. The clincial symptoms overlap however porphyria cutanea tarda (PCT) , erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria (CEP) are associated only with skin disease, but not with acute attacks. Variegate porphyria (VP) and hereditary coproporphyria (HCP) are associated with both. Variegate porphyria is common in South Africa, The other forms of porphyria are also encountered in South Africa, but less frequently.
Acute Intermittent Porphyria
Also known as AIP, this is not as common in South Africa as Variegate Porphyria. To learn more about AIP and its origins, read more about it here.
Also known as VP, the most common variant is the R59W genetic mutation, read more to learn about the various mutations within South Africa and the origins.