O'Reilly F M, Darby C, Fogarty J, Tormey W, Kay E W, Leader M, Murphy G M
Department of Biochemistry, St James' Hospital, Dublin, Ireland.
Arch Dermatol. 1997 Sep;133(9):1098-101.
To assess the importance of iron overload as a risk factor for porphyria cutanea tarda (PCT).
Prospective study during a 4-month period.
Departments of emergency care, gastroenterology, and dermatology in a tertiary referral center.
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).
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.
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.
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.
评估铁过载作为迟发性皮肤卟啉病（PCT）危险因素的重要性。
为期4个月的前瞻性研究。
一家三级转诊中心的急诊科、胃肠病科和皮肤科。
如果血清铁蛋白水平大于500微克/升（正常范围：女性，<125微克/升；男性，<325微克/升），则患者被认为符合纳入本研究的条件。
对研究中纳入的所有患者在临床相关时分析卟啉排泄情况。所有病例均通过生化方法确诊为PCT。然后对新诊断的PCT病例进行HLA分型。
在4127例接受检测的患者中，确定了240例血清铁蛋白水平升高的患者，其中74例血清铁蛋白水平升高超过500微克/升。在后一组中，17.5%患有血色素沉着症，6.7%患有PCT。血色素沉着症组中PCT的发病率为23%；HLA分型显示存在至少一种血色素沉着症标记物。
在无明显原因的情况下血清铁蛋白水平升高应促使对血色素沉着症和PCT进行调查。一些PCT患者中血色素沉着症的HLA杂合性可能是肝铁沉积的原因。
