{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T23:57:47Z","timestamp":1785196667876,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2006,8,9]],"date-time":"2006-08-09T00:00:00Z","timestamp":1155081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background\u2002<\/jats:bold> Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological description of hearing impairment in patients in the Fabry Outcome Survey (FOS), which is the largest available database of Fabry patients.<\/jats:p><jats:p><jats:bold>Materials and methods\u2002<\/jats:bold> Questionnaires were completed by 566 Fabry patients, of whom 316 reported ear\u2010related symptoms. Pure\u2010tone audiograms from 86 patients, performed before starting enzyme replacement therapy, were analysed and compared with age\u2010 and sex\u2010specific normal values (International Organization for Standardization, ISO 7029).<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> When compared to an age\u2010matched population (ISO 7029), 74% of patients had a threshold elevated above the 95th centile in at least one tested frequency. All frequencies were affected to a similar degree. However, only 14 patients (16%) were clinically affected by hearing impairment according to the age\u2010independent World Health Organization (WHO) classification (mean threshold at 0\u00b75, 1 and 2\u00a0kHz worse than 25\u00a0dB). Hearing loss was sensorineural in 63 patients (73%) of whom 7 patients (8%) had also a conductive component. One patient had a purely conductive hearing loss. Episodes of sudden hearing loss seemed to occur more frequently than in the general population. Men were affected earlier and more severely than women.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> Hearing in Fabry disease is significantly worse than in an age\u2010matched general population but leads to clinically relevant hearing impairment in only 16% of cases. It resembles accelerated presbycusis with an additional Fabry\u2010specific strial\u2010type hearing loss.<\/jats:p>","DOI":"10.1111\/j.1365-2362.2006.01702.x","type":"journal-article","created":{"date-parts":[[2006,8,9]],"date-time":"2006-08-09T08:45:24Z","timestamp":1155113124000},"page":"654-662","source":"Crossref","is-referenced-by-count":53,"title":["Hearing loss in Fabry disease: data from the Fabry Outcome Survey"],"prefix":"10.1111","volume":"36","author":[{"given":"S.","family":"Hegemann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Hajioff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Conti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Sunder\u2010Plassmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Widmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Keilmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,8,9]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1177\/000348948909800509"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_6_5_2","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1651-2227.2003.tb00219.x","article-title":"Auditory and vestibular findings in Fabry disease: a study of hemizygous males heterozygous females","volume":"443","author":"Conti G","year":"2003","journal-title":"Acta P\u00e6diatr Suppl"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-3-10"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000009948.86528.72"},{"key":"e_1_2_6_8_2","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1651-2227.2003.tb00218.x","article-title":"Inner ear function in children with Fabry disease","volume":"443","author":"Keilmann A.","year":"2003","journal-title":"Acta P\u00e6diatr Suppl"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"e_1_2_6_10_2","unstructured":"International Organization for Standardization (2000)Acoustics \u2013 statistical distribution of hearing thresholds as a function of age ISO 7029: 2000.http:\/\/www.iso.org."},{"key":"e_1_2_6_11_2","unstructured":"World Health Organization (1980)International classification of impairments disabilities and handicaps.Geneva Switzerland."},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1080\/16513860301713"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0030-6665(20)30362-5"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1067\/mhn.2000.109486"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-195506000-00002"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1964.00750040381003"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1177\/00034894931020S101"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-200005270-00022"}],"container-title":["European Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2362.2006.01702.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2362.2006.01702.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T06:54:56Z","timestamp":1697180096000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2362.2006.01702.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,9]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1111\/j.1365-2362.2006.01702.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2362.2006.01702.x","archive":["Portico"],"relation":{},"ISSN":["0014-2972","1365-2362"],"issn-type":[{"value":"0014-2972","type":"print"},{"value":"1365-2362","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,9]]}}}