Hereditary Hemochromatosis as a Risk Factor for Joint Replacement Surgery

Sahinbegovic, Enijad; Dallos, Tomáš; Aigner, Elmar; Axmann, Roland; Engelbrecht, M.; Schöniger–Hekele, Maximilian; Karonitsch, Thomas; Farkas, Martin; Karger, Thomas; Willeit, Johann; Stölzel, Ulrich; Keyßer, Gernot; Datz, Christian; Kiechl, Stefan; Schett, Georg; Zwerina, Jochen

doi:10.1016/j.amjmed.2010.01.024

Cited by 37 publications

(36 citation statements)

References 8 publications

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“…The hip joint was by far the joint most frequently replaced, further suggesting the involvement of a specific joint in patients with hemochromatosis (21, 22). Importantly, we recently demonstrated a 9‐fold increased risk of early joint failure in patients with hemochromatosis compared with the general population (23).…”

Section: Discussionmentioning

confidence: 99%

Musculoskeletal disease burden of hereditary hemochromatosis

Sahinbegovic

Dallos

Aigner

et al. 2010

Arthritis & Rheumatism

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Objective. To determine the prevalence, clinical picture, and disease burden of arthritis in patients with hereditary hemochromatosis.Methods. In this cross-sectional observational study of 199 patients with hemochromatosis and iron overload, demographic and disease-specific variables, genotype, and organ involvement were recorded. The prevalence, intensity, and localization of joint pain were assessed, and a complete rheumatologic investigation was performed. Radiographs of the hands, knees, and ankles were scored for joint space narrowing, erosions, osteophytes, and chondrocalcinosis. In addition, the number and type of joint replacement surgeries were recorded.Results. Joint pain was reported by 72.4% of the patients. Their mean ؎ SD age at the time of the initial joint symptoms was 45.8 ؎ 13.2 years. If joint pain was present, it preceded the diagnosis of hemochromatosis by a mean ؎ SD of 9.0 ؎ 10.7 years. Bony enlargement was observed in 65.8% of the patients, whereas synovitis was less common (13.6%). Joint space narrowing and osteophytes as well as chondrocalcinosis of the wrist and knee joints were frequent radiographic features of hemochromatosis. Joint replacement surgery was common, with 32 patients (16.1%) undergoing total joint replacement surgery due to severe OA. The mean ؎ SD age of these patients was 58.3 ؎ 10.4 years at time of joint replacement surgery. Female sex, metacarpophalangeal joint involvement, and the presence of chondrocalcinosis were associated with a higher risk of early joint failure (i.e., the need for joint replacement surgery).Conclusion. Arthritis is a frequent, early, and severe symptom of hemochromatosis. Disease is not confined to involvement of the metacarpophalangeal joints and often leads to severe damage requiring the replacement of joints.

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Section: Discussionmentioning

confidence: 99%

Musculoskeletal disease burden of hereditary hemochromatosis

Sahinbegovic

Dallos

Aigner

et al. 2010

Arthritis & Rheumatism

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“…A positive clinical association was established between subclinical H63D mutation in the HFE gene and primary OA in the ankle joints of patients [19], but apparently not for primary hip or knee OA [20]. More recently, it has been shown that hemochromatosis is associated with frequent, early and severe symptoms of arthritis and is a risk factor for knee replacement surgery [21,22]. …”

Section: Introductionmentioning

confidence: 99%

Age-dependent ferritin elevations and HFE C282Y mutation as risk factors for symptomatic knee osteoarthritis in males: a longitudinal cohort study

Kennish

Attur

et al. 2014

BMC Musculoskelet Disord

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BackgroundAge, gender and genetic predisposition are major intrinsic risk factors for osteoarthritis (OA). Iron increases are associated with age and gene mutation. In the present study, we examined whether serum ferritin, an indicator of total body iron stores, correlates with clinical features in patients with OA, and whether the hemochromatosis Fe (HFE) gene mutation plays a role.MethodsIn a 2-year longitudinal observational study, 127 patients with knee OA and 20 healthy individuals (controls) were enrolled. All patients underwent standardized weight-bearing fixed-flexion posteroanterior knee radiographs. Peripheral blood samples were analyzed for serum ferritin, and genotyped for HFE using allelic discrimination methods.ResultsHigher levels of serum ferritin were found in patients older than 56 years (P =0.0186) and males (P =0.0006), with a trend toward higher ferritin in patients with OA. HFE gene mutation carriers were more prevalent among patients with OA than among healthy controls. When stratified further by gender, we found that male patients with OA had higher levels of serum ferritin than male control subjects [odds ratio = 4.18 (limits of 95% confidence interval: 0.86–27.69, P = 0.048)]. Analyses of radiographic data indicated that higher ferritin was associated with narrower joint space width at baseline (P = 0.032) in male patients. Additionally, among men, risk prediction of radiographic severity [Kellgren-Lawrence (KL) grade >2)] in the higher ferritin group was almost five times that of the lower ferritin group (odds ratio = 4.74, P = 0.023).ConclusionOur data suggest that increased ferritin levels are associated with symptomatic knee OA in males. This finding needs to be validated in a larger cohort of patients.

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“…Recent evidence suggests that approximately 30–50% of HH patients develop an associated arthropathy. The typical location of arthritis is the second and third metacarpophalangeal (MCP) joint, but hip, knee and ankle joints can also be affected 4. Misdiagnosis as rheumatoid arthritis or idiopathic osteoarthritis (OA) is not uncommon.…”

Section: Introductionmentioning

confidence: 99%

VCAM-1 serum levels are associated with arthropathy in hereditary haemochromatosis

et al. 2013

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ObjectivesThe aim of this study was to assess the role of vascular adhesion molecule 1 (VCAM-1) in patients with hereditary haemochromatosis (HH) with or without arthropathy.MethodsSera from a large cross-sectional cohort of unselected HH patients (n=147) were obtained and compared to an age-matched and sex-matched control group. Serum levels of VCAM-1 were measured by ELISA and were correlated with clinical measures.ResultsVCAM-1 serum levels were elevated in HH patients as compared to matched controls (mean 913±456 vs 654±451 ng/ml, p<0.0001). Within the HH patient group, VCAM-1 levels were much higher in patients with arthropathy and joint replacement surgery. VCAM-1 levels correlated well with radiographic measures of HH arthropathy (r=0.36, p<0.0001). Multivariate regression analysis confirmed a highly significant association of VCAM-1 serum levels and the presence of HH arthropathy, independent from diabetes, body mass index and age.ConclusionsVCAM-1 serum levels emerge as a biomarker for haemochromatosis arthropathy.

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Hereditary Hemochromatosis as a Risk Factor for Joint Replacement Surgery

Cited by 37 publications

References 8 publications

Musculoskeletal disease burden of hereditary hemochromatosis

Musculoskeletal disease burden of hereditary hemochromatosis

Age-dependent ferritin elevations and HFE C282Y mutation as risk factors for symptomatic knee osteoarthritis in males: a longitudinal cohort study

VCAM-1 serum levels are associated with arthropathy in hereditary haemochromatosis

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