clinical features

Last reviewed 03/2022

Details vary but generally, three groups of clinical manifestations are recognised. Depending on the exact condition, these may be present in childhood or may remain latent until middle age.

• dermal lesions - with the exception of acute intermittent porphyria, these are seen with exposure to sunlight. They include vesicles, bullae, blistering and oedema, and may be disfiguring. There may be pigmentation abnormalities and hypertrichosis.

• gastrointestinal features - colicky abdominal pain is common in AIP, variegate porphyria and hereditary coproporphyria. There is usually associated vomiting and constipation. Gallstones may develop in erythrohepatic protoporphyria. There may be splenomegaly and haemolytic anaemia in EPP, erythrocytic porphyria and hepatoerythrocytic porphyria.

• neuropsychiatric features - pain, weakness, and paraesthesia, often in the absence of abdominal pain, may be present in AIP, VP and HC.

These are very general comments. The reader is advised to consult the specific types for more detailed information.