The liver in protoporphyria

In 1961, Magnus and coworkers (1) reported the case of a 35-year-old man who for 27 years had had intense itching and swelling of his skin after exposure to sunlight. Urinary excretion of porphyrins and porphyrin precursors was normal, but the red blood cells and stool contained increased amounts of protoporphyrin. The authors proposed the name erythropoietic protoporphyria for this "hitherto undescribed erythropoietic condition."t Lancet is a widely distributed journal, and several gastroenterologists/hepatologists probably saw the title of the article. Some may have even read the summary, only to breathe a sigh of relief that this was not a type of porphyria which would enter into the differential diagnosis of obscure abdominal pain. Moreover, the liver was not the site of the metabolic disturbance, and the disorder would be classified as erythropoietic and not hepatic.