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Hemochromatosis and porphyria
Richard W Lambrecht1, Herbert L Bonkovsky
1Department of Medicine and Biochemistry, The Liver-Biliary-Pancreatic Center, University of Massachusetts Medical School, Worcester 01605-2324, USA.
Seminars in Gastrointestinal Disease
|June 18, 2002
Summary
This case study highlights how excess iron overload contributes to porphyria cutanea tarda. Therapeutic phlebotomy effectively reduced iron levels, improving skin symptoms.
Area of Science:
- Biochemistry
- Dermatology
- Genetics
Background:
- Porphyria cutanea tarda (PCT) is a photosensitive disorder.
- PCT is characterized by blistering and skin fragility.
- Iron overload is a known risk factor for PCT.
Purpose of the Study:
- To illustrate the role of iron overload in PCT pathogenesis.
- To demonstrate the effectiveness of phlebotomy in managing PCT.
Main Methods:
- Case report of a 52-year-old male patient.
- Diagnosis confirmed by laboratory studies.
- Genetic testing for HFE gene mutations (C282Y and H63D).
- Treatment with therapeutic phlebotomy.
Main Results:
- Patient presented with blisters and sores on hands.
- Laboratory results confirmed PCT with iron overload.
- HFE gene mutations C282Y and H63D were identified.
- Phlebotomy led to gradual improvement of cutaneous symptoms.
Conclusions:
- Excess iron significantly contributes to PCT development and progression.
- Iron promotes uroporphyrin overproduction through various mechanisms.
- Therapeutic phlebotomy is an effective treatment for PCT associated with iron overload.