The Treatment of Porphyria Cutanea Tarda by Venesection

摘要

The effect of treatment on 21 patients with porphyria cutanea tarda is described.Before treatmentthe exposed skin showed blistering and fragility, milia, hirsutes, and changes in pigmentation, with pseudoscleroderma in some. A history of a heavy alcohol consumption either at presentation or in the past was obtained from approximately 50 per cent of the patients whilst 30 per cent admitted to only a moderate intake of alcohol. No evidence of excess alcohol could be obtained from the remaining 20 per cent. Plasma iron was raised in 70 per cent of patients and serial determinations showed that this persisted in 30 per cent.Porphyrin excretion showed a gross excess of urinary uroporphyrin in all patients and increased urinary coproporphyrin in 80 per cent. The changes in faecal porphyrins were less marked and in nearly 60 per cent were normal.Liver iron was increased in all patients biopsied. Thirty per cent showed cirrhosis, the remainder lesser hepatocellular damage. Only one patient showed completely normal liver-function tests.Sensitivity of the skin to 400 nm radiation was tested in all but one of the patients and abnormal reactions obtained in nearly 80 per cent.Treatmentwas by repeated venesections in 16 patients and all save one showed an excellent response. Urinary uroporphyrin slowly fell to normal or near normal and this was followed by improvement in the skin. Spontaneous blistering was the first clinical sign to disappear, closely followed by cessation of abnormal fragility. Other cutaneous signs regressed slowly and in most patients the skin returned almost to normal. One man ceased consumption of alcohol and this was followed by a complete biochemical and clinical remission. One patient died of cardiac failure which developed a few months after venesections were stopped.Two patients have shown biochemical relapse with a marked rise in urinary uroporphyrin excretion but with no deterioration in the skin. A second course of venesections has returned urinary uroporphyrin excretion to near normal levels in each case.The way in which venesection produces this excellent therapeutic response is unknown but several hypotheses are discussed, e.g. depletion of iron in the hepatic cell.It is suggested that venesection is the treatment of choice for porphyria cutanea tarda.