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.

No abstract

No abstract

No abstract