Association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritis
Aims: To study factors associated with the development of calcium pyrophosphate (CPP) arthritis and the severity phenotype. Methods: Transversal case-control study. Cases had to be confirmed by both X-ray chondrocalcinosis and CPP crystals in synovial fluid. Controls had neither chondrocalcinosis no...
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| Format: | Article |
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Open Exploration Publishing Inc.
2023-10-01
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| Series: | Exploration of Musculoskeletal Diseases |
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| Online Access: | https://www.explorationpub.com/uploads/Article/A100721/100721.pdf |
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| author | Joana Atxotegi-Saenz de Buruaga Nuria Perez-Herrero Nerea Perez-Herrero Cristina Vazquez-Puente Maria del Consuelo Modesto-Caballero Fernando Perez-Ruiz |
| author_facet | Joana Atxotegi-Saenz de Buruaga Nuria Perez-Herrero Nerea Perez-Herrero Cristina Vazquez-Puente Maria del Consuelo Modesto-Caballero Fernando Perez-Ruiz |
| author_sort | Joana Atxotegi-Saenz de Buruaga |
| collection | DOAJ |
| description | Aims: To study factors associated with the development of calcium pyrophosphate (CPP) arthritis and the severity phenotype. Methods: Transversal case-control study. Cases had to be confirmed by both X-ray chondrocalcinosis and CPP crystals in synovial fluid. Controls had neither chondrocalcinosis nor CPP crystals in synovial fluid. Patients and controls with hemochromatosis or primary hyperparathyroidism were not included. Mutations of hemochromatosis genes (HFE), magnesium (Mg), calcium (Ca), phosphate, iron (Fe), transferrin saturation, ferritin, parathyroid hormone (PTH), and calcifediol levels were studied. Results: Three hundred patients and 300 sex and age matched controls were compared. Lower serum Mg (sMg) and higher ferritin levels were found among patients. Hypomagnesemia (HypoMg) and HFE mutations were more frequent among patients. Involvement of over one joint was observed in 199 (66.4%) patients whereas persistent joint inflammation was retrieved in 154 (51.4%) of the patients. Initial analysis showed that the frequency of polyarticular and inflammatory phenotypes seemed to be progressively overrepresented in patients with HFE mutations. Further bivariate and multivariate analysis adjusted for the time from onset disclosed that the presence of genotypes with C282Y mutations was associated with polyarticular disease (hazard risk 3.501, 95% confidence interval 1.862–6.581, P < 0.001). Although C282Y mutations also seemed to be associated with inflammatory patterns, the association did not reach statistical significance (P = 0.173). Conclusions: Low sMg and high ferritin levels are associated with CPP arthritis (CPPA). In patients without hemochromatosis, HFE mutations, and specifically C282Y mutations seem to associate with the polyarticular disease phenotype, and plausibly with the chronic inflammatory phenotype. |
| format | Article |
| id | doaj-art-85b5e29ecdec45b09bb7f0104015770d |
| institution | DOAJ |
| issn | 2836-6468 |
| language | English |
| publishDate | 2023-10-01 |
| publisher | Open Exploration Publishing Inc. |
| record_format | Article |
| series | Exploration of Musculoskeletal Diseases |
| spelling | doaj-art-85b5e29ecdec45b09bb7f0104015770d2025-08-20T02:44:56ZengOpen Exploration Publishing Inc.Exploration of Musculoskeletal Diseases2836-64682023-10-011518619310.37349/emd.2023.00021Association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritisJoana Atxotegi-Saenz de Buruaga0Nuria Perez-Herrero1https://orcid.org/0009-0000-4140-8262Nerea Perez-Herrero2Cristina Vazquez-Puente3Maria del Consuelo Modesto-Caballero4https://orcid.org/0000-0002-4983-5506Fernando Perez-Ruiz5https://orcid.org/0000-0002-5268-1894Osakidetza, OSI EE-Cruces, Rheumatology Division, Cruces University Hospital, 48903 Barakaldo, Spain; BIOBizkaia Health Research Institute, 48903 Barakaldo, SpainDepartment of Medicine, Medicine and Nursery School, University of the Basque Country UPV/EHU, 48903 Barakaldo, SpainUniversity of Deusto, 48007 Bilbao, País Vasco, SpainOsakidetza, OSI EE-Cruces, Rheumatology Division, Cruces University Hospital, 48903 Barakaldo, Spain; BIOBizkaia Health Research Institute, 48903 Barakaldo, SpainOsakidetza, OSI EE-Cruces, Rheumatology Division, Cruces University Hospital, 48903 Barakaldo, Spain; BIOBizkaia Health Research Institute, 48903 Barakaldo, SpainOsakidetza, OSI EE-Cruces, Rheumatology Division, Cruces University Hospital, 48903 Barakaldo, Spain; BIOBizkaia Health Research Institute, 48903 Barakaldo, Spain; Department of Medicine, Medicine and Nursery School, University of the Basque Country UPV/EHU, 48903 Barakaldo, SpainAims: To study factors associated with the development of calcium pyrophosphate (CPP) arthritis and the severity phenotype. Methods: Transversal case-control study. Cases had to be confirmed by both X-ray chondrocalcinosis and CPP crystals in synovial fluid. Controls had neither chondrocalcinosis nor CPP crystals in synovial fluid. Patients and controls with hemochromatosis or primary hyperparathyroidism were not included. Mutations of hemochromatosis genes (HFE), magnesium (Mg), calcium (Ca), phosphate, iron (Fe), transferrin saturation, ferritin, parathyroid hormone (PTH), and calcifediol levels were studied. Results: Three hundred patients and 300 sex and age matched controls were compared. Lower serum Mg (sMg) and higher ferritin levels were found among patients. Hypomagnesemia (HypoMg) and HFE mutations were more frequent among patients. Involvement of over one joint was observed in 199 (66.4%) patients whereas persistent joint inflammation was retrieved in 154 (51.4%) of the patients. Initial analysis showed that the frequency of polyarticular and inflammatory phenotypes seemed to be progressively overrepresented in patients with HFE mutations. Further bivariate and multivariate analysis adjusted for the time from onset disclosed that the presence of genotypes with C282Y mutations was associated with polyarticular disease (hazard risk 3.501, 95% confidence interval 1.862–6.581, P < 0.001). Although C282Y mutations also seemed to be associated with inflammatory patterns, the association did not reach statistical significance (P = 0.173). Conclusions: Low sMg and high ferritin levels are associated with CPP arthritis (CPPA). In patients without hemochromatosis, HFE mutations, and specifically C282Y mutations seem to associate with the polyarticular disease phenotype, and plausibly with the chronic inflammatory phenotype.https://www.explorationpub.com/uploads/Article/A100721/100721.pdfpyrophosphatearthritischondrocalcinosishemochromatosis genes |
| spellingShingle | Joana Atxotegi-Saenz de Buruaga Nuria Perez-Herrero Nerea Perez-Herrero Cristina Vazquez-Puente Maria del Consuelo Modesto-Caballero Fernando Perez-Ruiz Association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritis Exploration of Musculoskeletal Diseases pyrophosphate arthritis chondrocalcinosis hemochromatosis genes |
| title | Association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritis |
| title_full | Association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritis |
| title_fullStr | Association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritis |
| title_full_unstemmed | Association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritis |
| title_short | Association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritis |
| title_sort | association of mutations in hemochromatosis genes with clinical severity of calcium pyrophosphate arthritis |
| topic | pyrophosphate arthritis chondrocalcinosis hemochromatosis genes |
| url | https://www.explorationpub.com/uploads/Article/A100721/100721.pdf |
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