Cargando…

HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study

OBJECTIVE: Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthritis-like disease including the hip joints are the most frequent manifestation in patient...

Descripción completa

Detalles Bibliográficos
Autores principales: Oppl, Bastian, Husar-Memmer, Emma, Pfefferkorn, Svea, Blank, Martha, Zenz, Peter, Gollob, Eva, Wurnig, Christian, Engel, Alfred, Stadlmayr, Andreas, Uyanik, Gökhan, Brozek, Wolfgang, Klaushofer, Klaus, Zwerina, Jochen, Datz, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235364/
https://www.ncbi.nlm.nih.gov/pubmed/30427934
http://dx.doi.org/10.1371/journal.pone.0207415
_version_ 1783370865213177856
author Oppl, Bastian
Husar-Memmer, Emma
Pfefferkorn, Svea
Blank, Martha
Zenz, Peter
Gollob, Eva
Wurnig, Christian
Engel, Alfred
Stadlmayr, Andreas
Uyanik, Gökhan
Brozek, Wolfgang
Klaushofer, Klaus
Zwerina, Jochen
Datz, Christian
author_facet Oppl, Bastian
Husar-Memmer, Emma
Pfefferkorn, Svea
Blank, Martha
Zenz, Peter
Gollob, Eva
Wurnig, Christian
Engel, Alfred
Stadlmayr, Andreas
Uyanik, Gökhan
Brozek, Wolfgang
Klaushofer, Klaus
Zwerina, Jochen
Datz, Christian
author_sort Oppl, Bastian
collection PubMed
description OBJECTIVE: Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthritis-like disease including the hip joints are the most frequent manifestation in patients with HFE hemochromatosis and iron overload. Therefore, screening of patients with severe osteoarthritis of the hip could identify patients with HFE hemochromatosis. METHODS: In this prospective cross-sectional study, 940 patients aged <70 years with end-stage osteoarthritis of the hip undergoing elective joint replacement surgery were screened for HFE hemochromatosis and compared to age- and sex-matched controls. RESULTS: No greater prevalence of C282Y homozygosity mutation or elevated serum ferritin or transferrin saturation levels was found in the study cohort with severe osteoarthritis of the hip than in controls from the general population. CONCLUSION: Our screening approach could not identify an increased prevalence of HFE gene mutations and iron overload in younger patients with severe osteoarthritis of the hip.
format Online
Article
Text
id pubmed-6235364
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-62353642018-12-01 HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study Oppl, Bastian Husar-Memmer, Emma Pfefferkorn, Svea Blank, Martha Zenz, Peter Gollob, Eva Wurnig, Christian Engel, Alfred Stadlmayr, Andreas Uyanik, Gökhan Brozek, Wolfgang Klaushofer, Klaus Zwerina, Jochen Datz, Christian PLoS One Research Article OBJECTIVE: Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthritis-like disease including the hip joints are the most frequent manifestation in patients with HFE hemochromatosis and iron overload. Therefore, screening of patients with severe osteoarthritis of the hip could identify patients with HFE hemochromatosis. METHODS: In this prospective cross-sectional study, 940 patients aged <70 years with end-stage osteoarthritis of the hip undergoing elective joint replacement surgery were screened for HFE hemochromatosis and compared to age- and sex-matched controls. RESULTS: No greater prevalence of C282Y homozygosity mutation or elevated serum ferritin or transferrin saturation levels was found in the study cohort with severe osteoarthritis of the hip than in controls from the general population. CONCLUSION: Our screening approach could not identify an increased prevalence of HFE gene mutations and iron overload in younger patients with severe osteoarthritis of the hip. Public Library of Science 2018-11-14 /pmc/articles/PMC6235364/ /pubmed/30427934 http://dx.doi.org/10.1371/journal.pone.0207415 Text en © 2018 Oppl et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Oppl, Bastian
Husar-Memmer, Emma
Pfefferkorn, Svea
Blank, Martha
Zenz, Peter
Gollob, Eva
Wurnig, Christian
Engel, Alfred
Stadlmayr, Andreas
Uyanik, Gökhan
Brozek, Wolfgang
Klaushofer, Klaus
Zwerina, Jochen
Datz, Christian
HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study
title HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study
title_full HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study
title_fullStr HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study
title_full_unstemmed HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study
title_short HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study
title_sort hfe hemochromatosis screening in patients with severe hip osteoarthritis: a prospective cross-sectional study
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235364/
https://www.ncbi.nlm.nih.gov/pubmed/30427934
http://dx.doi.org/10.1371/journal.pone.0207415
work_keys_str_mv AT opplbastian hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT husarmemmeremma hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT pfefferkornsvea hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT blankmartha hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT zenzpeter hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT gollobeva hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT wurnigchristian hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT engelalfred hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT stadlmayrandreas hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT uyanikgokhan hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT brozekwolfgang hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT klaushoferklaus hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT zwerinajochen hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy
AT datzchristian hfehemochromatosisscreeninginpatientswithseverehiposteoarthritisaprospectivecrosssectionalstudy