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Iron overload in porphyria cutanea tarda
M Sampietro1, G Fiorelli, S Fargion
1Dipartimento di Medicina Interna, Università di Milano, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Haematologica
|April 6, 1999
Summary
Iron overload is key in porphyria cutanea tarda (PCT). Genetic hemochromatosis mutations are common in PCT patients, confirming links and offering a genetic marker for this iron metabolism disorder.
Area of Science:
- Hepatology
- Genetics
- Metabolic Disorders
Background:
- Porphyria cutanea tarda (PCT) involves impaired uroporphyrinogen decarboxylase (URO-D) activity.
- Iron overload is a known PCT trigger, with iron depletion being a primary therapy.
- Genetic hemochromatosis has been hypothesized to contribute to iron overload in PCT.
Purpose of the Study:
- To review current understanding of iron overload pathophysiology in PCT.
- To discuss recent findings on the molecular epidemiology of hemochromatosis in PCT patients.
Main Methods:
- Literature review of Science Citation Index and Medline databases.
- Synthesis of evidence with authors' personal data and experience.
Main Results:
- Mild to moderate iron overload is crucial in PCT pathogenesis.
- Identification of HFE gene mutations in most PCT patients confirms the PCT-hemochromatosis association.
- HFE mutations provide a detectable genetic marker for PCT, aiding clinical application.
Conclusions:
- The HFE gene mutation discovery advances understanding of PCT pathophysiology and iron metabolism.
- Further research is needed to clarify how iron overload, HFE mutations, alcohol, and hepatitis viruses interact in PCT.
- Genetic markers will facilitate studies on porphyrin and iron metabolism in PCT with varying etiologies and genotypes.