What is porphyria

  • 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 porphyrias:

  • Acute Intermittent Porphyria (AIP)
  • Variegate Porphyria (VP) (also suffers cutaneous symptoms)
  • Hereditary Coproporphyria (HCP) (also suffers cutaneous symptoms)
  • ALA-dehydratase Deficiency Porphyria (ADP)

Cutaneous (skin) porphyrias:

  • 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:

What is porphyria?
Introduction to porphyria