Familial symptomatic porphyria in South Africa

Abstract

Seven members from 3 generations of a family investigated for evidence of symptomatic porphyria (SP) were found to be affected in varying degrees by the disease. Four had cutaneous lesions, while all 7 had biochemical abnormalities diagnostic for SP in their excreta, plasma or hepatic tissue. The results were obtained using the highly sensitive technique of quantitative fluoroscanning after separation of the porphyrin methyl esters by thin-layer chromatography. This clear case of familial SP is rare in South Africa where the high incidence of the sporadic form of the disease is well documented. This study indicates that SP occurs in the following two forms: (i) the sporadic type, usually found as an uncommon associate of chronic liver disease; and (ii) the rare familial type, inherited as an autosomal dominant trait.