Erythropoietic protoporphyria and early onset of cholestasis.

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.

[1]  E. Jones,et al.  Liver disease and erythropoietic protoporphyria: a concise review. , 2010, World journal of gastroenterology.

[2]  M. Worwood,et al.  Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. , 2007, Blood.

[3]  K. Katsuoka,et al.  Erythropoietic protoporphyria with eye complications , 2007, The Journal of dermatology.

[4]  A. Anstey,et al.  Liver disease in erythropoietic protoporphyria: insights and implications for management , 2007, Postgraduate Medical Journal.

[5]  S. Sassa.  Modern diagnosis and management of the porphyrias , 2006, British journal of haematology.

[6]  A. Finlay,et al.  Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life , 2006, The British journal of dermatology.

[7]  C. Yakut,et al.  Combined Valve and Coronary Surgery in a Patient with Erythropoietic Protoporphyria , 2005, Journal of cardiac surgery.

[8]  S. Soon,et al.  Erythropoietic Protoporphyria Presenting with Liver Failure in Adulthood , 2004, Dermatology.

[9]  R. Sakata,et al.  Aortic valve replacement in a patient with erythropoietic protoporphyria. , 2003, The Annals of thoracic surgery.

[10]  K. Abe,et al.  Microsomal Enzyme Induction and Clinical Aggravation of Porphyria: The Evaluation of Human Urinary 6β‐Hydroxycortisol/Cortisol Ratio as the Index of Hepatic CYP3A4 Activity , 2002, Journal of clinical pharmacology.

[11]  U. Beuers,et al.  Ursodeoxycholic acid in cholestatic liver disease: Mechanisms of action and therapeutic use revisited , 2002, Hepatology.

[12]  H. Lochs,et al.  Liver cirrhosis in erythropoietic protoporphyria: improvement of liver function with ursodeoxycholic acid , 2001, American Journal of Gastroenterology.

[13]  Maruyama,et al.  A case of erythropoietic protoporphyria with liver cirrhosis suggesting a therapeutic value of supplementation with alpha-tocopherol. , 2000, Hepatology research : the official journal of the Japan Society of Hepatology.

[14]  TimothyJ Peters,et al.  Diagnosis and management of porphyria , 2000, BMJ : British Medical Journal.

[15]  L. Meerman.  Erythropoietic protoporphyria. An overview with emphasis on the liver. , 2000, Scandinavian journal of gastroenterology. Supplement.

[16]  B. Asokumar,et al.  Anaesthetic management of a patient with erythropoietic protoporphyria for ventricular septal defect closure , 1999, Paediatric anaesthesia.

[17]  Murphy.  The cutaneous porphyrias: a review , 1999 .

[18]  I. Krantz,et al.  Features of alagille syndrome in 92 patients: Frequency and relation to prognosis , 1999, Hepatology.

[19]  G. Murphy.  The cutaneous porphyrias: a review. The British Photodermatology Group. , 1999, The British journal of dermatology.

[20]  G. Parry,et al.  Neuropathy in erythropoietic protoporphyrias , 1998, Neurology.

[21]  M. Doss,et al.  Hepatic complications of erythropoietic protoporphyria * , 1998, Photodermatology, photoimmunology & photomedicine.

[22]  J. Schölmerich,et al.  Liver failure in erythropoietic protoporphyria associated with choledocholithiasis and severe post-transplantation polyneuropathy. , 2008, Liver.

[23]  J. Rank,et al.  Follow-up after liver transplantation for protoporphyric liver disease. , 1996, Liver transplantation and surgery : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

[24]  J. Stevens,et al.  Mitral valve replacement in a patient with acute intermittent porphyria. , 1996, Anesthesia and analgesia.

[25]  P. Norris,et al.  Hepatic complications of erythropoietic protoporphyria , 1994, The British journal of dermatology.

[26]  J. Kleibeuker,et al.  PERIOPERATIVE MEASURES DURING LIVER TRANSPLANTATION FOR ERYTHROPOIETIC PROTOPORPHYRIA , 1994, Transplantation.

[27]  P. Maurel,et al.  Effect of corticosteroids on the expression of cytochromes P450 and on cyclosporin A oxidase activity in primary cultures of human hepatocytes. , 1992, Molecular pharmacology.

[28]  M. Doss,et al.  Hepatobiliary implications and complications in protoporphyria, a 20-year study. , 1989, Clinical biochemistry.

[29]  C. Gips,et al.  Hepatic disease in erythropoietic protoporphyria. , 1986, Dermatologica.

[30]  Wright Yg,et al.  Anesthetic considerations of porphyria. , 1981 .

[31]  Y. G. Wright,et al.  Anesthetic considerations of porphyria. , 1981, AANA journal.

[32]  B. Leppard,et al.  Erythropoietic Protoporphyria , 1973, Proceedings of the Royal Society of Medicine.