Abstract
ObjectiveArthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a complication of hereditary hemochromatosis (HH). We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotype.MethodsA total of 306 patients with HH completed a questionnaire. Clinical and demographic characteristics and presence of OA, OP and related complications were compared by genotype, adjusting for age, sex, body mass index (BMI), current smoking and menopausal status.ResultsIn total, 266 of the 306 patients (87%) were homozygous for C282Y, and 40 (13%) were compound heterozygous. The 2 groups did not differ by median age [60 (interquartile range [IQR] 53 to 68) vs. 61 (55 to 67) years, P=0.8], sex (female: 48.8% vs. 37.5%, P=0.18) or current smoking habits (12.4% vs. 10%, P=0.3). As compared with compound heterozygous patients, C282Y homozygous patients had higher median serum ferritin concentration at diagnosis [1090 (IQR 610 to 2210) vs. 603 (362 to 950) µg/L, P<0.001], higher median transferrin saturation [80% (IQR 66 to 91%) vs. 63% (55 to 72%), P<0.001]) and lower median BMI [24.8 (22.1 to 26.9) vs. 26.2 (23.5 to 30.3) kg/m2, P<0.003]. The overall prevalence of self-reported OA was significantly higher with C282Y homozygosity than compound heterozygosity (53.4% vs. 32.5%; adjusted odds ratio [aOR] 2.4 [95% confidence interval 1.2–5.0]), as was self-reported OP (25.6% vs. 7.5%; aOR 3.5 [1.1–12.1]).ConclusionPatients with C282Y homozygosity may be at increased risk of musculoskeletal complications of HH.
Highlights
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by increased absorption of dietary iron and rapid iron release from macrophages, which leads to abnormal accumulation of iron in several organs, the liver, joints and bones [1, 2]
The 2 groups did not differ by median age [60 vs. 61 (55 to 67) years, P=0.8], sex or current smoking habits (12.4% vs. 10%, P=0.3)
The overall prevalence of self-reported OA was significantly higher with C282Y homozygosity than
Summary
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by increased absorption of dietary iron and rapid iron release from macrophages, which leads to abnormal accumulation of iron in several organs, the liver, joints and bones [1, 2]. In patients with iron overload, 2 hemochromatosis type 1 (HFE) genotypes have been commonly described: C282Y homozygosity and C282Y/H63D compound heterozygosity. The musculoskeletal complications of HH have been mainly described in C282Y homozygous patients. These complications consist of an arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) [3, 4]. The prevalence of OA ranges from 20% to 80% in homozygous patients with HH [4]. Such patients are at increased risk of joint replacement [5]. The reported prevalence of OP in these patients ranges from 25% to 35% and OP seems to be associated with severity of iron overload [1]
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