- The porphyrias are a group of eight relatively rare genetic disorders.
- In each porphyria a specific enzyme, which is needed to complete each step on the pathway to produce haem, is faulty.
- Porphyrins accumulate causing severe medical problems, the type of porphyria varies according to the enzyme which is affected.
- The porphyrias are broadly categorised into acute and cutaneous, although some porphyrias suffer from both sets of symptoms (VP and HCP).
- 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.
Further details can be found on the acute and cutaneous pages, but briefly, the eight types are:
- Acute Intermittent Porphyria (AIP)
- Variegate Porphyria (VP) (also suffers cutaneous symptoms)
- Hereditary Coproporphyria (HCP) (also suffers cutaneous symptoms)
- ALA-dehydratase Deficiency Porphyria (ADP)
- Porphyria Cutanea Tarda (PCT)
- Erythropoietic Protoporphyria (EPP)
- X-Linked Dominant Erythropoietic Protoporphyria (XLDPP)
- Congenital Erythropoietic Porphyria (CEP)
We have two general leaflets on porphyria, which can be downloaded here: