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September 1997

Screening of Patients With Iron Overload to Identify Hemochromatosis and Porphyria Cutanea Tarda

Author Affiliations

From the Department of Biochemistry, St James' Hospital (Dr O'Reilly and Mss Darby and Fogarty), and Departments of Dermatology (Drs Tormey and Murphy), Chemical Pathology (Dr Tormey), and Pathology (Drs Kay and Leader), Beaumont Hospital, Dublin, Ireland. Dr O'Reilly is now with the Emory University School of Medicine, Atlanta, Ga.

Arch Dermatol. 1997;133(9):1098-1101. doi:10.1001/archderm.1997.03890450044005

Objective:  To assess the importance of iron overload as a risk factor for porphyria cutanea tarda (PCT).

Design:  Prospective study during a 4-month period.

Setting:  Departments of emergency care, gastroenterology, and dermatology in a tertiary referral center.

Patients:  Patients were deemed eligible for inclusion in the study if serum ferritin levels were greater than 500 μg/L (normal range: females, <125 μg/L; males, <325 μg/L).

Main Outcome Measures:  Porphyrin excretion profiles were analyzed on all patients included in the study, where clinically relevant. A diagnosis of PCT was confirmed biochemically in all cases. The HLA typing was then performed on newly diagnosed cases of PCT.

Results:  Of 4127 patients tested, 240 patients with an elevated serum ferritin level were identified, of whom 74 had an elevated serum ferritin level of more than 500 μg/L. Of the latter group, 17.5% had hemochromatosis and 6.7% had PCT. The incidence of PCT in the hemochromatosis group was 23%; HLA typing revealed the presence of at least 1 of the hemochromatosis markers.

Conclusions:  A high serum ferritin level in the absence of evident cause should prompt investigation for both hemochromatosis and PCT. The HLA heterozygosity for hemochromatosis in some patients with PCT may be a cause of hepatic siderosis.Arch Dermatol. 1997;133:1098-1101