{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T19:27:00Z","timestamp":1783970820550,"version":"3.55.0"},"reference-count":55,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:sec>\n                  <jats:title>Introduction<\/jats:title>\n                  <jats:p>Fabry disease (FD) may present with left ventricular hypertrophy (LVH), renal insufficiency or stroke. Several studies investigated FD prevalence in populations expressing these symptoms. A systematic review was conducted to calculate the overall prevalence of FD in these cohorts.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Online databases were searched for studies on screening for FD. Study population selection, screening methods and outcome of screening were recorded.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>20 studies were identified, 10 of which included both male and female patients. In all (n=19) studies with male and almost all (n=10) with female patients, \u03b1-galactosidase A (\u03b1-Gal A) activity was used as the screening method. In men on dialysis (10 studies), overall FD prevalence was 0.33% (95% CI 0.20% to 0.47%) and in women (6 studies) 0.10% (95% CI 0% to 0.19%). Combined prevalence of FD in patients with renal transplant was 0.38% in men (95% CI 0.07% to 0.69%) and 0% in women. In patients with LVH, selection of study population and differences in the method of screening hampered the calculation of an overall prevalence (ranging from 0.9% to 3.9% in men and 1.1% to 11.8% in women). In premature strokes (n=2 studies), overall FD prevalence was 4.2% (95% CI 2.4% to 6.0%) in men and 2.1% (95% CI 0.5% to 3.7%) in women.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>The prevalence of FD in dialysis patients is 0.33% for men and 0.10% for women. The prevalence of FD in LVH is at least 1% for both genders. In women, most studies were performed with \u03b1-Gal A activity measurements as the screening tool, although this method fails to detect one third of female patients with FD, underestimating the overall prevalence in women.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2009.072116","type":"journal-article","created":{"date-parts":[[2009,9,25]],"date-time":"2009-09-25T09:06:30Z","timestamp":1253869590000},"page":"217-222","source":"Crossref","is-referenced-by-count":130,"title":["Screening for Fabry disease in high-risk populations: a systematic review"],"prefix":"10.1136","volume":"47","author":[{"given":"G E","family":"Linthorst","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M G","family":"Bouwman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F A","family":"Wijburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M F G","family":"Aerts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B J H M","family":"Poorthuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C E M","family":"Hollak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,9,24]]},"reference":[{"key":"2025101721391145000_47.4.217.1","doi-asserted-by":"publisher","DOI":"10.1126\/science.167.3922.1268"},{"key":"2025101721391145000_47.4.217.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"2025101721391145000_47.4.217.3","first-page":"3733","article-title":"\u03b1-Galactosidase A deficiency: Fabry disease","volume-title":"The metabolic and molecular bases of inherited disease","volume":"3","author":"Desnick","year":"2001"},{"key":"2025101721391145000_47.4.217.4","doi-asserted-by":"publisher","DOI":"10.1007\/BF01606034"},{"key":"2025101721391145000_47.4.217.5","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00160.x"},{"key":"2025101721391145000_47.4.217.6","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201184"},{"key":"2025101721391145000_47.4.217.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"2025101721391145000_47.4.217.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"2025101721391145000_47.4.217.9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"2025101721391145000_47.4.217.10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"2025101721391145000_47.4.217.11","doi-asserted-by":"publisher","DOI":"10.1086\/422366"},{"key":"2025101721391145000_47.4.217.12","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"2025101721391145000_47.4.217.13","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"Agalsidase-beta therapy for advanced Fabry disease: a randomized trial","volume":"146","author":"Banikazemi","year":"2007","journal-title":"Ann Intern Med"},{"key":"2025101721391145000_47.4.217.14","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006080816"},{"key":"2025101721391145000_47.4.217.15","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900075"},{"key":"2025101721391145000_47.4.217.16","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"2025101721391145000_47.4.217.17","doi-asserted-by":"publisher","DOI":"10.1086\/504601"},{"key":"2025101721391145000_47.4.217.18","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21074"},{"key":"2025101721391145000_47.4.217.19","doi-asserted-by":"publisher","DOI":"10.1159\/000076846"},{"key":"2025101721391145000_47.4.217.20","doi-asserted-by":"crossref","unstructured":"Vedder AC Gerdes VE Poorthuis BJ Helmond M Trip MD Aerts JM Hollak CE . 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