Erythropoietic Protoporphyria: A Family Study

Abstract

A family of 90 members covering five generations has been investigated for erythropoietic protoporphyria. Six members showed the complete syndrome with photosensitivity and characteristic chemical abnormalities in blood and stool. The biochemical marker of raised blood protoporphyrin or raised stool protoporphyrin was found in six members with no clinical signs. These are regarded as latent carriers, and in the case of children they should be reviewed regularly by simple screening tests. There was strong hearsay evidence of photosensitivity in four other members of the family. The mode of inheritance postulated by Haeger-Aronsen is confirmed—an autosomal dominant. © 1967, British Medical Journal Publishing Group. All rights reserved.