Bile Porphyrin Analysis in the Evaluation of Variegate Porphyria

VARIEGATE porphyria is an autosomal dominant disorder characterized clinically by attacks of neurologic dysfunction, photocutaneous lesions, or both. The symptoms that occur during attacks, chiefly abdominal pain, are identical to those of acute intermittent porphyria. 1 2 3 4 5 Skin lesions may be present when patients are not having attacks of neurologic dysfunction, but they were present in less than half of the affected persons in some studies. 2 Moreover, the skin lesions may be mild and may not be mentioned by the patient. During acute attacks, the urinary abnormalities of variegate porphyria are indistinguishable from those of acute intermittent porphyria, with marked elevations in . . .