Laboratory findings. The diagnosis is indicated by dark, port wine, urine, erythrodontia, and hemolytic anemia. Since the defect results from a deficiency of uroporphyrinogen III cosynthase activity increased uroporphyrin is seen in the urine. Feces demonstrate both increased uroporphyrin and coproporphyrin. The bone marrow shows a normoblastic hyperplasia with red fluorescence (from 400 nm wavelength irradiation) in a variable portion of the cells. The spleen with an increased pulp and follicular hyperplasia, and the skin will have an increased melanin and fibroblasts.
Treatment. Prophylaxis is used to prevent skin lesions. Normal suntan lotions are ineffective and beta carotene may be given but has not proven to be as effective as in protoporphyria. Complications like infections are treated with antibiotics. In many cases spleenectomy has been used to reduce hemolysis and the stimulation of excessive porphyrin production. Transfusions also will inhibit erythropoiesis and decrease porphyrin production. Hematin I.V. administration has been effective in a few patients. Patients rarely survive beyond their middle age years.
