Worse Outcomes of Patients With HFE Hemochromatosis With Persistent Increases in Transferrin Saturation During Maintenance Therapy

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BACKGROUND & AIMS:Even if patients with hemochromatosis maintain low serum levels of ferritin, they still have an increased risk of general and joint symptoms, which reduce quality of life. This could be related to persistently increased transferrin saturation. We assessed whether duration of exposure to increased transferrin saturation during maintenance therapy is associated with more severe general and joint symptoms.METHODS:We performed a longitudinal cohort study of 266 individuals homozygous for the C282Y substitution in HFE, seen at a tertiary reference center in Rennes, France, and followed for 3 or more years after initial iron removal. Serum ferritin and transferrin saturation were measured at the same time points; values were used to calculate duration of exposure to serum ferritin 50 μg/L or more (FRT50exp) and to determine transferrin saturation 50% or greater (SAT50exp). Clinical and biochemical follow-up data were recorded from log books completed during maintenance therapy. The primary outcome was change in general and joint symptoms, determined from answers to a self-administered questionnaire.RESULTS:Patients were followed for 13.5 ± 5.9 years. FRT50exp (3.2 ± 3.5 years) and SAT50exp (4.5 ± 3.4 years) values correlated (r = 0.38; P < .0001), but each associated with different variables in multivariate analysis. We found independent associations, regardless of follow-up time, between SAT50exp ≥6 years and worsened joint symptoms (odds ratio [OR], 4.19; 95% confidence interval [CI], 1.88–9.31), and between SAT50exp ≥6 years and decreased athletic ability (OR, 2.35; 95% CI, 1.16–4.73). SAT50exp ≥8 years associated independently with decreased work ability (OR, 3.20; 95% CI, 1.40–7.30) and decreased libido (OR, 3.49; 95% CI, 1.56–7.80).CONCLUSIONS:In a longitudinal study of patients treated for hemochromatosis, we associated duration of exposure to increased transferrin saturation (longer than 6 years) with more severe general and joint symptoms. Maintenance of serum levels of ferritin at 50 μg/L or less does not indicate control of transferrin saturation, so guidelines on the management of hemochromatosis require revision.

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