Table 1 Liver disease and the porphyrias: names and patterns of inheritance for the seven main clinical variants of porphyria, highlighting those characterised by concomitant liver disease.
Disorder | Liver disease | Inheritance |
---|---|---|
ALA dehydratase porphyria | No | Autosomal recessive |
Acute intermittent porphyria | No | Autosomal dominant |
Congenital erythropoietic porphyria | No | Autosomal recessive |
Porphyria cutanea tarda | Yes | Complex |
Hereditary coproporphyria | No | Autosomal dominant |
Variegate porphyria | No | Autosomal dominant, incomplete penetrance |
Erythropoietic protoporphyria | Yes | Autosomal recessive (very rare) and autosomal dominant incomplete penetrance |