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Information

This is the most common porphyria (2-4 in 100,000) and is characterized by cutaneous photosensitivity and, usually, hepatic disease. It is due to partial deficiency (familial, sporadic, or acquired) of hepatic uroporphyrinogen decarboxylase. Photosensitivity causes facial pigmentation, increased fragility of skin, erythema, and vesicular and ulcerative lesions, typically involving face, forehead, and forearms. Neurologic manifestations are not observed. Contributing factors include excess alcohol, iron, and estrogens. Pts with liver disease are at risk for cirrhosis and hepatocellular carcinoma. Plasma and urine uroporphyrin and 7-carboxylate porphyrin are increased.

Treatment: Porphyria Cutanea Tarda

Avoidance of precipitating factors, including abstinence from alcohol, estrogens, iron supplements, and other exacerbating drugs, is the first line of therapy. A complete response can almost always be achieved by repeated phlebotomy (every 1-2 weeks) until hepatic iron is reduced. Chloroquine or hydroxychloroquine may be used in low doses (e.g., 125-mg chloroquine phosphate twice weekly) to promote porphyrin excretion in pts unable to undergo or unresponsive to phlebotomy.

Outline

Section 13. Endocrinology and Metabolism