title: Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country.
abstract: OBJECTIVE
  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.
  
  
  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).
  
  
  CONCLUSIONS
  The H63D/H63D genotype and H63D allele predispose individuals to HF and MS. MRI revealed iron overload in 33% of patients.
authors: Gastroenterology, Mendaro Hospital Spain.
authors: Agustin
authors: A
authors: Castiella
authors: Gastroenterology, Mendaro Hospital Spain.
authors: Eva
authors: E
authors: Zapata
authors: Gastroenterology, Mendaro Hospital Spain.
authors: Leire
authors: L
authors: Zubiaurre
authors: Radiology, Osatek Donostia Spain.
authors: Jose
authors: J
authors: Ma Alustiza
authors: Immunology Service, Donostia Hospital Spain.
authors: Ma Dolores
authors: MD
authors: De Juan
authors: Gastroenterology, Mendaro Hospital Spain.
authors: Arantxa
authors: A
authors: Iribarren
authors: Epidemiology Unit, Donostia Hospital Spain.
authors: Jose I
authors: JI
authors: Emparanza
authors: Gastroenterology Service, Mondragon Hospital, Spain.
authors: Pedro
authors: P
authors: Otazua
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood*; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D015994:Incidence; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D024821:Metabolic Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010045:Outpatients; D011446:Prospective Studies; D063728:Secondary Care Centers; D013030:Spain / Q000453:epidemiology; D055815:Young Adult
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA; D005293:Ferritins