Erythropoietic protoporphyria in Slovenia. Epidemiologic study.
32 patients with EPP were detected in Slovenia, which gives an incidence of 1.71 cases/100,000 inhabitants. 20 patients had typical clinical symptoms and increased values of laboratory assays, 12 patients had either slightly expressed clinical symptoms or increased values of laboratory tests; these patients were diagnosed as latent cases. The patients belong to 12 families, no blood relationship between these families could be established. In 7 families the latent carriers of this inborn error of the porphyrin metabolism were detected. Almost all patients live in two distinct, rather small geographical areas, one in north-eastern Slovenia and the other near Ljubljana.
D001855:Bone Marrow Diseases / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D011164:Porphyrias / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D011166:Porphyrins / Q000032:analysis; D015022:Yugoslavia
D011166:Porphyrins