Erythropoietic Protoporphyria in Slovenia

Abstract

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.

Lipoid Proteinosis

“…Erythropoietic protoporphyria may display similar skin symptoms, but not oral lesions. 5 Increased values of protoporphyrin in erythrocytes are a key symptom.…”

Drug-Induced Protoporphyria in Beagle Dogs

“…PCT is an acquired disease although in some individuals a genetic deficiency of the enzyme uroporphyrinogen decarboxylase contributes to the disease severity and development (Sassa and Kappa, 2000; American Porphyria Foundation, 2005). The main porphyrin precursor that accumulates in the human porphyria type EPP is protoporphyrin (Kansky and Glavaè, 2004). In EPP patients a markedly decreased activity of the enzyme ferrochelatase is found (Sarkani and Cox, 1995; Straka et al, 1991).…”

“…More recent studies indicate that patients with liver complications share a common genetic feature (“null allele mutation”) that results in the formation of a truncated protein (Kansky and Glavac, 1994). The striking difference between the dog and man might be due to the fact that impairment of ferrochelatase activity occurs by a different mechanism, i.e.…”