{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T06:02:52Z","timestamp":1768975372956,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,3,20]],"date-time":"2012-03-20T00:00:00Z","timestamp":1332201600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fabry disease (FD) is an X\u2010linked lysosomal storage disorder, caused by a deficiency of \u03b1\u2010galactosidase A. Several studies demonstrated that heterozygotes have symptoms such as acroparesthesia, abdominal pain and chronic fatigue. However, as these symptoms are aspecific and relatively common in the general population, it is important to compare the prevalence of these symptoms with an appropriate control group. The aim of this study was to explore the prevalence of signs and symptoms in FD females in comparison to a control group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>FD females and age\u2010matched controls were approached to complete a questionnaire. This questionnaire was developed by the Dutch Fabry patient organisation (Fabry Support en Informatie Groep Nederland, FSIGN) with input from Fabry expert\u2010physicians from the AMC. We compared the prevalence symptoms using Pearson's chi\u2010square test. Bonferroni correction was used to correct for multiple comparisons.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 63 heterozygotes and 52 controls completed the questionnaire. Many symptoms were also common in controls. Yet, fatigue, palpitations, pains in hands and feet, joint pain, dizziness, loss of libido and proteinuria during pregnancy were more common in Fabry females (all p\u2009&lt;\u20090.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In addition to acroparesthesia \u2013 fatigue, palpitations, dizziness, proteinuria during pregnancy, libido loss and joint pain are more prevalent in FD females as compared to a control group. Although, these symptoms are present in a significant proportion of normal controls they deserve further attention by treating physicians to better understand their significance, treatment and relationship with FD.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-011-9447-9","type":"journal-article","created":{"date-parts":[[2012,3,19]],"date-time":"2012-03-19T10:59:40Z","timestamp":1332154780000},"page":"891-898","source":"Crossref","is-referenced-by-count":32,"title":["Prevalence of symptoms in female Fabry disease patients: a case\u2010control survey"],"prefix":"10.1002","volume":"35","author":[{"given":"Machtelt G.","family":"Bouwman","sequence":"first","affiliation":[{"name":"Department of Paediatrics Academic Medical Center Amsterdam The Netherlands"},{"name":"Academic Medical Center Emma Childrens Hospital Meibergdreef 9 Amsterdam 1105 AZ The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia M.","family":"Rombach","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Academic Medical Center and \u2018Sphinx\u2019 the Amsterdam Lysosome Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Schenk","sequence":"additional","affiliation":[{"name":"Dutch Fabry Patient Organisation, FSIGN Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annelies","family":"Sweeb","sequence":"additional","affiliation":[{"name":"Dutch Fabry Patient Organisation, FSIGN Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frits A.","family":"Wijburg","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Academic Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla E. M.","family":"Hollak","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Academic Medical Center and \u2018Sphinx\u2019 the Amsterdam Lysosome Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabor E.","family":"Linthorst","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Academic Medical Center and \u2018Sphinx\u2019 the Amsterdam Lysosome Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,3,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.310.6973.170"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2010.02.004"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036327"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1445-5994.2002.00291.x"},{"issue":"4","key":"e_1_2_9_7_1","first-page":"e38","article-title":"Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty\u2010two hemizygous male patients. BMC Med Genet 2002 October 11;3:10.Guffon N. Clinical presentation in female patients with Fabry disease","volume":"40","author":"Germain DP","year":"2003","journal-title":"J Med Genet"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.12.004"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.e38"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.md.0000178976.62537.6b"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2009.01.007"},{"key":"e_1_2_9_12_1","doi-asserted-by":"crossref","unstructured":"KobayashiM OhashiT SakumaM IdaH EtoY(2008)Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.J Inherit Metab Dis.","DOI":"10.1007\/s10545-007-0740-6"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767050903580391"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1447-0756.2009.01164.x"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012499119196"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp031"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3810\/pgm.2010.11.2230"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0484-8"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d8321"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0018-9"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012993305223"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9447-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T20:31:08Z","timestamp":1694809868000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9447-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3,20]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.1007\/s10545-011-9447-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9447-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3,20]]}}}