Improvement of hepatic protoporphyrin accumulation after antibiotic treatment.

Abstract

Erythropoietic protoporphyria (EPP) is an autosomal dominantly inherited disorder that is related to a decreased activity of the enzyme ferrochelatase, catalyzing the formation of heme from protoporphyrin IX and iron (1). EPP is characterized clinically by skin photosensitivity, which usually appears during early childhood, and biochemically by elevated red cell protoporphyrin levels. Acute hepatic failure is the most serious complication of EPP and has been estimated to occur in 1‐10% of patients (1, 2). Clinically, jaundice and abdominal pain are the most common symptoms due to accumulation of protoporphyrin in the liver. The liver disease is also known to progress relentlessly towards terminal hepatic failure once it becomes symptomatic and then liver transplantation is usually required to save the life of the patient (3). In this article, we present a rare case with recognized improvement of hepatic protoporphyrin accumulation after antibiotic treatment. CASE REPORTS A man, born in 1959, had a history of erythropoietic protoporphyria (EPP) since the age of 18. The diagnosis was made on the basis of severe skin photosensitivity and elevated protoporphyrin (PP) levels. His father and uncles were also affected by the disease. Until 1994, he was in good health except for skin photosensitivity.