Characteristics of the arthropathy described in hereditary hemochromatosis

Carroll, Graeme; Breidahl, William; Olynyk, John K.

doi:10.1002/acr.20501

Cited by 38 publications

(55 citation statements)

References 32 publications

(33 reference statements)

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“…Joint complaints are the presenting symptom in nearly 30% of the patients,9 but usually occur after diagnosis and are more frequent in patients over 50 years of age 10 11. The frequency of reported arthropathy ranges from 24% to 81% depending on the population studied and definition of arthropathy used 12. Factors associated with susceptibility to arthropathy are age, a serum ferritin level >1000 μg/mL at diagnosis, and homozygosity for C282Y 8 10…”

Section: Clinical Characteristics Of Arthropathy In Haemochromatosis mentioning

confidence: 99%

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The detrimental effects of iron on the joint: a comparison between haemochromatosis and haemophilia

et al. 2015

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Joint damage due to (recurrent) joint bleeding in haemophilia causes major morbidity. Although the exact pathogenesis has not been fully elucidated, a central role for iron is hypothesised. Likewise, in hereditary haemochromatosis joint destruction is caused by iron overload. A comparison between these types of arthropathy could provide more insight in the influence of iron in inducing joint damage. A literature review was performed to compare both disorders with respect to their clinical and histological characteristics, and preclinical studies on the influence of iron on different joint components were reviewed. Similarities in the features of arthropathy in haemochromatosis and haemophilia are cartilage degeneration, subchondral bone changes with osteophyte and cyst formation, and osteoporosis. In both disorders synovial inflammation and proliferation are seen, although this is much more explicit in haemophilia. Other substantial differences are the age at onset, the occurrence of chondrocalcinosis radiographically and calcium pyrophosphate dihydrate deposition disease in haemochromatosis, and a rapid progression with joint deformity and neovascularisation in haemophilia. Preclinical studies demonstrate detrimental effects of iron to all components of the joint, resulting in synovial inflammation and hyperplasia, chondrocyte death, and impaired osteoblast function. These effects, particularly the synovial changes, are aggravated in the presence of a pro-inflammatory signal, which is prominent in haemophilic arthropathy and minimal in haemochromatosis. Additional research is needed to further specify the role of iron as a specific target in treating these types of arthropathy.

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Section: Clinical Characteristics Of Arthropathy In Haemochromatosis mentioning

confidence: 99%

“…Joint inflammation is typically minimal, but fluctuating inflammatory symptoms might be present, especially in calcium pyrophosphate dihydrate crystal deposition (CPPD) disease 12 13. In addition, osteoporosis is frequently observed, with incidences varying from 25% to 50% 14–16…”

Section: Clinical Characteristics Of Arthropathy In Haemochromatosis mentioning

confidence: 99%

The detrimental effects of iron on the joint: a comparison between haemochromatosis and haemophilia

et al. 2015

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“…Rare conditions such as hemochromatosic arthropathy [8], ochronotic arthropathy [9], Wilson's disease [10], and oxalate crystal deposition disease [11] can lead to difficult clinical situations. Other joint deposition-related entities such as cholesterol crystal arthropathy, cryoglobulin-crystal arthropathy, liquid lipid crystals arthropathy, corticosteroid crystals-induced arthritis, or Charcot-Leyden crystals deposition are exceptional and therefore not developed here.…”

Section: Introductionmentioning

confidence: 99%

Treatment of Nongout Joint Deposition Diseases: An Update

2014

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This update develops the actual therapeutic options in the management of the joint involvement of calcium pyrophosphate deposition disease (CPPD), basic calcium phosphate (BCP) deposition disease, hemochromatosis (HH), ochronosis, oxalosis, and Wilson's disease. Conventional pharmaceutical treatment provides benefits for most diseases. Anti-interleukine-1 (IL-1) treatment could provide similar results in CPPD than in gout flares. There is only limited evidence about the efficacy of preventive long-term colchicine intake, methotrexate, and hydroxychloroquine in chronic CPPD. Needle aspiration and lavage have satisfactory short and midterm results in BCP. Extracorporeal shockwave therapy has also proved its efficacy for high-doses regimes. Phlebotomy does not seem to have shown real efficacy on joint involvement in HH so far. Iron chelators' effects have not been assessed on joint involvement either, while IL-1 blockade may prove useful. NSAIDs have limited efficacy on joint involvement of oxalosis, while colchicine and steroids have not been assessed either. The use of nitisinone for ochronotic arthropathy is still much debated, but it could provide beneficial effects on joint involvement. The effects of copper chelators have not been assessed either in the joint involvement of Wilson's disease. NSAIDs should be avoided because of the liver affection they may worsen.

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“…Excess iron can accumulate in cartilage and synovial tissues. In vitro, iron complexes decrease proteoglycan synthesis and could induce lipid peroxidation in chondrocytes, which may contribute to cartilage catabolism 3. In addition, accumulation of ferritin in synovial fibroblasts could be pro-inflammatory; indeed, in some tissue, ferritin was a potent and rapid inducer of IL-1 gene expression 3.…”

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confidence: 99%

“…In vitro, iron complexes decrease proteoglycan synthesis and could induce lipid peroxidation in chondrocytes, which may contribute to cartilage catabolism 3. In addition, accumulation of ferritin in synovial fibroblasts could be pro-inflammatory; indeed, in some tissue, ferritin was a potent and rapid inducer of IL-1 gene expression 3. In HH patients, anakinra, which inhibits both IL-1α and IL-1β, could reduce neutrophilic infiltration, a characteristic of HH arthropathy8 and could act by decreasing inflammation related to CPP crystals 9 10.…”

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confidence: 99%