Utility of hepatic or total body iron burden in the assessment of advanced hepatic fibrosis in HFE hemochromatosis

• Published in: Scientific reports Vol. 9; no. 1; pp. 20234 - 8
• Main Authors: Chin, Justin, Powell, Lawrie W., Ramm, Louise E., Ayonrinde, Oyekoya T., Ramm, Grant A., Olynyk, John K.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 27.12.2019; Nature Publishing Group; Nature Portfolio
• Subjects: 692/4020/4021/1607/1604; 692/4020/4021/1607/1605; Adult; Biopsy; Cirrhosis; Female; Ferritin; Ferritins - blood; Fibrosis; Genotype; Hemochromatosis; Hemochromatosis - diagnosis; Hemochromatosis - genetics; Hemochromatosis - metabolism; Hemochromatosis Protein - genetics; Hemochromatosis Protein - metabolism; Homozygote; Humanities and Social Sciences; Humans; Iron; Iron - metabolism; Iron Overload - diagnosis; Iron Overload - metabolism; Liver; Liver - metabolism; Liver cirrhosis; Liver Cirrhosis - diagnosis; Liver Cirrhosis - genetics; Liver Cirrhosis - metabolism; Male; Middle Aged; multidisciplinary; Mutation, Missense; Phlebotomy; Phlebotomy - methods; Retrospective Studies; ROC Curve; Science
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-019-56732-0

Development of advanced hepatic fibrosis in HFE Hemochromatosis (HH) is influenced by hepatic iron concentration (HIC) and age. In patients with HH, it is important to assess the likelihood of cirrhosis and thus the need for confirmatory liver biopsy. Therapeutic phlebotomy also provides an estimate of mobilisable iron stores. We determined whether mobilisable iron stores may predict the presence of advanced fibrosis. Retrospective analysis of 137 male and 65 female HH subjects was undertaken. Biochemical, histological and phlebotomy data were available on all subjects. The mean values of HIC, HIC × [age], mobilisable iron, mobilisable iron × [age] and serum ferritin in the cohort were higher in the group with advanced fibrosis. HIC had an optimum sensitivity and specificity of 73% for the diagnosis of advanced liver fibrosis, with a cut-off HIC level of 200 µmol/g (AUROC 0.83, p < 0.0001). AUROC for HIC was greater in females (0.93) than males (0.79). Mobilisable iron had an optimum sensitivity and specificity both of 83% at a cut-off of 9.6 g for the prediction of advanced fibrosis in all subjects (AUROC 0.92, p < 0.0001). Mobilisable iron stores provide a simple, clinically useful indication of the risk of advanced fibrosis and should routinely be considered.