Liver Iron Concentration in Patients Referred to a Secondary Hospital for Hyperferritinemia: Analysis of the Different Groups According to HFE Mutations and the Transferrin Saturation Index

Abstract

Background: Olynyk et al. studied the liver iron concentration (LIC) by MRI of 52 consecutive patients of northern European origin who were referred to a tertiary hospital for hyperferritinemia (HF). They described three groups according to HFE mutations and the transferrin saturation index (TSI) (group A: no predisposing mutations (PM) for hereditary hemochromatosis (HH) and TSI > 45 %, group B: PM for HH and TSI > 45 %; group C: no PM for HH and normal TSI). In the Basque country, HH predisposing mutations differ, with prevalence of the H63D/H63D mutation. Objectives: To study the importance of HFE mutations and the TSI in determining LIC of HF patients attending the outpatient clinic at a secondary hospital. Methods: Prospective study of 132 consecutive patients with HF. In 120 HFE study was available. In 79 LIC was obtained by MRI. In 71 patients values of HFE mutations, TSI, and LIC by MRI were available. Results: Mean age: 55.68 ± 14.26 (23 - 83), 55 men and 16 women. The mean LIC in men was 35.66 ± 36.85; women 38.81 ± 29.75. The mean LIC in group A: 38.80 ± 45.18 (5 - 210), group B: 48.96 ± 37.51 (15 - 160), group C: 28.12 ± 18.85 (5 - 75). We compared the LIC mean values of the 3 groups with no significant differences. Conclusions: LIC values are similar in different groups of patients referred to a secondary hospital for HF, despite variable predisposition to HH.