Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/2098
Título: Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis
Autor: Camacho, A
Funck-Brentano, T
Simão, M
Cancela, L
Ottaviani, S
Cohen-Solal, M
Richette, P
Palavras-chave: CHLC ORT
Ferritins/genetics
Genotype
Hemochromatosis/complications
Hemochromatosis/genetics
Heterozygote
Histocompatibility Antigens Class I/genetics
Homozygote
Membrane Proteins/genetics
Musculoskeletal Diseases/etiology
Musculoskeletal Diseases/genetics
Osteoarthritis/genetics
Osteoporosis/genetics
Self Report
Transferrin/genetics
Data: 2015
Editora: Plos One
Citação: PLoS One. 2015 Mar 30;10(3):e0122817
Resumo: 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) µg/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.
Peer review: yes
URI: http://hdl.handle.net/10400.17/2098
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