Sebastiani G, Wallace DF, Davies SE, Kulhalli V, Walker AP, Dooley JS. Fatty liver in H63D homozygotes with hyperferritinemia. World J Gastroenterol 2006; 12(11): 1788-1792 [PMID: 16586555 DOI: 10.3748/wjg.v12.i11.1788]
Corresponding Author of This Article
Dr Giada Sebastiani, Department of Clinical and Experimental Medicine, Via Giustiniani 2, University of Padova, Padova 35100, Italy. giagioseba@iol.it
Article-Type of This Article
Case Report
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World J Gastroenterol. Mar 21, 2006; 12(11): 1788-1792 Published online Mar 21, 2006. doi: 10.3748/wjg.v12.i11.1788
Fatty liver in H63D homozygotes with hyperferritinemia
Giada Sebastiani, Daniel F Wallace, Susan E Davies, Vasu Kulhalli, Ann P Walker, James S Dooley
Giada Sebastiani, Ann P Walker, James S Dooley, Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, Royal Free Campus, University College London, London, United Kingdom
Daniel F Wallace, Department of Medicine, Royal Free and University College Medical School, Royal Free Campus, Uni-versity College London, London, United Kingdom and The Mem-brane Transport Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Susan E Davies, Department of Histopathology, Royal Free and University College Medical School, Royal Free Campus, University College London, London, United Kingdom
Vasu Kulhalli, Department of Gastroenterology, Newham General Hospital, London, United Kingdom
Supported by the European Commission Fifth Framework Pro-gramme Grant No. QLK6-CT-1999-02237. GS was supported by a Clinical Fellowship from the European Commission (Leonardo da Vinci Grant I/99/2/09209/PL/II.1.2.a/FPI)
Correspondence to: Dr Giada Sebastiani, Department of Clinical and Experimental Medicine, Via Giustiniani 2, University of Padova, Padova 35100, Italy. giagioseba@iol.it
Telephone: +39-49-8212294 Fax: +39-49-8211826
Received: December 2, 2005 Revised: December 7, 2005 Accepted: December 13, 2005 Published online: March 21, 2006
Abstract
To study the clinical correlates of the H63D mu-tation we have analysed the phenotype of H63D homo-zygotes identified through mutation analysis in a referral laboratory. A total of 366 blood samples referred for HFE analysis were screened for C282Y and H63D mutations. Four H63D homozygotes were identified. All had raised serum ferritin but normal transferrin
saturation. They were negative for hepatitis B and C and only one patient consumed excess alcohol. In all 4 cases ultrasonography revealed fatty liver. In two patients a liver biopsy was done and showed mild siderosis with an unusual distribution and macrovesicular steatosis. These data confirm the association between fatty liver, hyperferritinemia and increased hepatic iron, but do not clarify whether siderosis was related to steatosis rather than homozygosity for the H63D mutation. Patients with fatty liver may complicate the interpretation of data in population studies of the expression of H63D homozygosity.
