Screening of patients with iron overload to identify hemochromatosis and porphyria cutanea tarda.
OBJECTIVE
To assess the importance of iron overload as a risk factor for porphyria cutanea tarda (PCT).


METHODS
Prospective study during a 4-month period.


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


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


METHODS
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 micrograms/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.
O'Reilly
F M
FM
Department of Biochemistry, St James' Hospital, Dublin, Ireland.
Darby
C
C
Fogarty
J
J
Tormey
W
W
Kay
E W
EW
Leader
M
M
Murphy
G M
GM
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005243:Feces / Q000737:chemistry; D005260:Female; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006650:Histocompatibility Testing; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D017119:Porphyria Cutanea Tarda / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D011166:Porphyrins / Q000032:analysis; D011446:Prospective Studies
D011166:Porphyrins; D005293:Ferritins