Erythropoietic protoporphyria terminating in liver failure

A patient with erythropoietic protoporphyria was observed for 28 years. At the age of 38 years, cholestatic jaundice and rapidly deteriorating liver function developed. The patient died of massive bleeding from esophageal varices. During his terminal illness, the RBC protoporphyrin level rose to about 350 times the upper limit of normal, the urine contained increased protoporphyrins and coproporphyrins, but the stool porphyrin level was only moderately increased. Therapy with cholestyramine resin and vitamin E was associated with a decline in the RBC protoporphyrin level and a transient increase in the stool protoporphyrin level. The increase in RBC and serum protoporphyrin levels during the patient's terminal illness was not accompanied by an exacerbation of cutaneous photosensitivity.