Background Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) are considered classic complications of hereditary hemochromatosis (HH). There are limited data comparing OA and OP among HH patients with different HFE genotypes.
Objectives We investigated whether C282Y homozygosity was associated with an increased prevalence of OA and OP and related factors as compared to duplex heterozygosity (C282Y/H63D) in patients with HH.
Methods A questionnaire was completed by 306 patients with HH. Demographic characteristics, the presence of OA or OP were compared according to the genotype (C282Y/C282Y vs. C282Y/H63D) using logistic regression models with adjustment for sex, age and body mass index (BMI).
Results A total of 284 HH patients were included in this study: 229 (80.6%) were C282Y homozygous whereas 55 (19.4%) were C282Y/H63D heterozygous. Mean age was 59.9 +/- 10.9 year in both groups. Patients with homozygosity had higher ferritin levels at diagnosis (1730 +/- 1736 ng/ml vs. 972 +/- 190 ng/ml, p<0.001) and had a lower BMI (24.5 +/- 3.8 kg/m2 vs. 26.5 +/- 3.9 kg/m2, p=0.004). The overall prevalence of OA was higher in homozygous than in heterozygous patients: 44.01% vs. 6.69%, p=0.009 [aOR = 2.3 (CI95% 1.2 to 4.3), p= 0.01]). Furthermore, homozygosity was associated with an increased risk of knee and hip replacement: 11.7% vs. 0.71% p=0.047. This association was no longer significant in multivariate analyze (OR=3.5 CI95% 0.8 to 15.6, p=0.099). We then restricted the analysis to patients with ferritin levels above 1000 ng/ml, and found that the association between OA and the homozygous genotype was even higher (OR = 4.14 CI95% 1.2 to 13.8, p=0.02). Finally, we found a trend for a higher prevalence of OP or any bone fracture in the homozygous group: 19.4% vs. 3.2% p=0.22 and 23.8% vs. 4.6%, p=0.43, respectively.
Conclusions This study strongly suggests that duplex heterozygosity confers a lower risk of HH-related musculoskeletal complications.
Disclosure of Interest None Declared