The Turkish Journal of Pediatrics
2012 , Vol 54 , Num 6
Erythropoietic Protoporphyria and Early Onset of Cholestasis
1Department of Gastroenterology, Research Center for Children and Adolescents Health, Zahedan University of Medical
Sciences, Zahedan, 2Children’s Medical Center, Pediatrics Center of Excellence, 3Molecular Immunology Research Center,
Department of Immunology, School of Medicine, 4Research Center for Immunodeficiencies, Tehran University of Medical
Sciences, Tehran, Iran. E-mail: rezaei_nima@tums.ac.ir
Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial
ferrochelatase. This defect results in accumulation of protoporphyrin in
erythrocytes, plasma, liver, and skin, which causes severe photosensitivity.
Liver disease can occur in 1-4% of the patients with EPP, usually after at
least a decade of photosensitivity. Herein, we describe a 1.5-year-old child
with EPP with severe photosensitivity, heart abnormalities and early onset
of cholestatic liver disease, whose clinical condition improved gradually after
using ursodeoxycholic acid. It seems that liver disease in EPP patients is not
limited to the late phases of the disease and could develop in childhood and
early phases of EPP. Awareness among physicians has a major role in the early
detection and prevention of mistreatment of EPP in case of its combination
with other abnormalities.
Keywords :
erythropoietic protoporphyria, cholestasis, hepatic failure, ursodeoxycholic
acid.