Variegate porphyria in New England

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Abstract
Variegate porphyria (VP) is an autosomal dominant disease characterized in adults by mechanical fragility and blistering of sun-exposed skin or acute visceral and neurological manifestations. The laboratory diagnosis of VP depends on a search for high levels of coproporphyrin and protoporphyrin in the feces. Variegate porphyria was infrequently diagnosed in the US. In this study of 5 New England families with VP, there were 9 manifest, 6 latent and 6 questionable cases among 40 individuals studied. This report reviews the diagnostic approach to and treatment of affected individuals and their families.