Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country.

ABSTRACT

BACKGROUND AND AIMS: There are limited data on clinical and phenotypic characteristics of outpatients referred for hyperferritinemia (HF). To determine the causes of HF in outpatients referred to a secondary hospital. MATERIAL AND METHODS: A prospective study of 132 consecutive patients with HF (> 200 µg/L, women; > 300 µg/L, men) was conducted from January-December 2010. RESULTS: Mean age, 54.42 years (SD 13.47, range 23-83); body mass index (BMI), 28.80 (SD 3.96, 17-39); ferritin (SF), 579.54 ng/mL (SD 296.575, 206-1668); transferrin saturation (TSI), 43.87% (SD 14.09, 12-95); iron (Fe), 134 µg/dL (SD 49.68, 55-322); overweight 48.31%, and obese 40.44% (89%), and most patients were men (108/132). Regarding HFE mutations, H63D/H63D genotype and H63D allele frequencies were 17.5% (vs. 7.76% in controls); and 36% (31% in controls) respectively. While 63.6% consumed no alcohol, 18.1% consumed ≥ 60 g/day, the mean being 20.83 (SD 33.95, 0-140). Overall, 6/132 (4.5%) patients were positive for B or C hepatitis. Mean LIC by MRI was 36.04 (SD 32.78, 5-210), 53 patients having normal concentrations (< 36 µmol/g), 22 (33%) iron overload (37-80), and 4 (5%) high iron overload (> 80). Metabolic syndrome (MS) was detected in 44/80 men (55%) and 10/17 women (59%). In this group, the genotype frequency of the H63D/H63D mutation was significantly higher than in controls-21.56% vs. 7.76%- (p = 0.011); the H63D allelic frequency was 42.15% in MS group and 31% in controls (p = 0.027). CONCLUSION: The H63D/H63D genotype and H63D allele predispose individuals to HF and MS. MRI revealed iron overload in 33% of patients.