دورية أكاديمية
أعرض في EDS

Effect of C282Y genotype on self-reported musculoskeletal complications in hereditary hemochromatosis

التفاصيل البيبلوغرافية
العنوان: Effect of C282Y genotype on self-reported musculoskeletal complications in hereditary hemochromatosis
المؤلفون: Brito Camacho, António, Funck-Brentano, Thomas, Simão, Márcio, Cancela, Leonor, Ottaviani, Sebastien, Cohen-Solal, Martine, Richette, Pascal
المساهمون: Sapientia
بيانات النشر: Public Library Science, 2015.
سنة النشر: 2015
مصطلحات موضوعية: Joint Replacement Surgery, Genetic Hemochromatosis, Iron-Overload, Hfe Gene, Ferritin Concentrations, Increased Risk, Bone, Arthropathy, Osteoarthritis, Mutations
الوصف: Objective Arthropathy 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. Methods A 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. Results In 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) mu g/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]). Conclusion Patients with C282Y homozygosity may be at increased risk of musculoskeletal complications of HH.
الوصف (مترجم): Association Rhumatisme et Travail (Centre Viggo Petersen, Hospital Lariboisiere, Paris)
نوع الوثيقة: journal article
وصف الملف: application/pdf
اللغة: English
العلاقة: 1932-6203
DOI: 10.1371/journal.pone.0122817
الإتاحة: http://hdl.handle.net/10400.1/11630Test
حقوق: open access
رقم الانضمام: rcaap.com.ualg.sapientia.ualg.pt.10400.1.11630
قاعدة البيانات: RCAAP
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