Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis
Autor(a) principal: | |
---|---|
Data de Publicação: | 2015 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/2098 |
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. |
id |
RCAP_8212985fbc45c0858174f7e81cdd3bc1 |
---|---|
oai_identifier_str |
oai:repositorio.chlc.min-saude.pt:10400.17/2098 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary HemochromatosisCHLC ORTFerritins/geneticsGenotypeHemochromatosis/complicationsHemochromatosis/geneticsHeterozygoteHistocompatibility Antigens Class I/geneticsHomozygoteMembrane Proteins/geneticsMusculoskeletal Diseases/etiologyMusculoskeletal Diseases/geneticsOsteoarthritis/geneticsOsteoporosis/geneticsSelf ReportTransferrin/geneticsOBJECTIVE: 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.Plos OneRepositório do Centro Hospitalar Universitário de Lisboa Central, EPECamacho, AFunck-Brentano, TSimão, MCancela, LOttaviani, SCohen-Solal, MRichette, P2015-04-13T16:36:39Z20152015-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2098engPLoS One. 2015 Mar 30;10(3):e0122817info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:34:50Zoai:repositorio.chlc.min-saude.pt:10400.17/2098Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:19:29.492538Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis |
title |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis |
spellingShingle |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis Camacho, A 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 |
title_short |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis |
title_full |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis |
title_fullStr |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis |
title_full_unstemmed |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis |
title_sort |
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis |
author |
Camacho, A |
author_facet |
Camacho, A Funck-Brentano, T Simão, M Cancela, L Ottaviani, S Cohen-Solal, M Richette, P |
author_role |
author |
author2 |
Funck-Brentano, T Simão, M Cancela, L Ottaviani, S Cohen-Solal, M Richette, P |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Camacho, A Funck-Brentano, T Simão, M Cancela, L Ottaviani, S Cohen-Solal, M Richette, P |
dc.subject.por.fl_str_mv |
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 |
topic |
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 |
description |
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. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-04-13T16:36:39Z 2015 2015-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/2098 |
url |
http://hdl.handle.net/10400.17/2098 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
PLoS One. 2015 Mar 30;10(3):e0122817 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Plos One |
publisher.none.fl_str_mv |
Plos One |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1799131292103606272 |