Iron Overload and its Association with HaematologicalFindings in Porphyria Cutanea Tarda

Overview

Impaired iron metabolism in patients with porphyria cutanea tarda (PCT) participates in the developmentof its sporadic form and manifestation of its familial form via partial inhibition of liver uroporphyrinogendecarboxylase. The cause of iron accumulation is sometimes infection with the HCV virus,in other instances chronic alcoholism, frequently mutation of the C282Y gene of hereditary haemochromatosis(HFE). To elucidate conditions of iron metabolism the authors made an investigation in threegroups of PCT patient: the first one with a HFE mutation, the second one without it but with thepresence of anti-HCV antibodies and the third one without mutation of the gene and without antibodiesagainst HCV. In porphyric patients on average normal sideraemia was recorded which however wassignificantly higher in subjects with a heterozygous gene mutation (p=0.05). The serum ferritin valueswere markedly higher than normal in all PCT groups but the results did not differ significantly whenmutually compared. The same applied also to transferrin saturation.The values of serum concentrationof transferrin receptors examined in the first group of patients was within a normal range. A suitablemarker for non-invasive evaluation of an iron overload in PCT patients is the serum ferritin concentration.Serum iron is not necessarily significantly elevated in these patients and the same applies totransferrin saturation.

Key words:
porphyria cutanea tarda, iron, hepatitis C, C282HFE mutation