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Erythropoietic protoporphyria is an autosomal dominant disorder due to partial deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. Its prevalence is 1 in 100,000. Porphyrins (primarily protoporphyrin IX) from bone marrow erythrocytes and plasma are deposited in the skin and lead to cutaneous photosensitivity. Skin photosensitivity usually begins in childhood. The skin manifestations differ from those of other porphyrias, in that vesicular lesions are uncommon. Redness, swelling, burning, and itching can develop within minutes of sun exposure and resemble angioedema. Symptoms may seem out of proportion to the visible skin lesions. Chronic skin changes may include lichenification, leathery pseudovesicles, labial grooving, and nail changes. Liver function is usually normal, but liver disease and gallstones may occur. Protoporphyrin levels are increased in bone marrow, circulating erythrocytes, plasma, bile, and feces; protoporphyrin in erythrocytes is free rather than zinc complexed as it is in other types of porphyria or hematologic disorders. Urinary porphyrin levels are normal. Diagnosis is confirmed by identifying a mutation in the ferrochelatase gene.

Treatment: Erythropoietic Protoporphyria

Avoidance of sun exposure is essential. Oral β-carotene (120-180 mg/d) improves tolerance to sunlight in many pts. The dosage may be adjusted to maintain serum carotene levels between 10 and 15 µmol/L (600-800 µg/dL). Cholestyramine or activated charcoal may promote fecal excretion of protoporphyrin. Plasmapheresis or IV heme therapy may be beneficial.

Outline

Section 13. Endocrinology and Metabolism