{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T14:44:16Z","timestamp":1766760256051,"version":"3.40.5"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T00:00:00Z","timestamp":1724716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Internal Medicine Journal"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>The natural history of untreated patients with type 1 Gaucher disease (GD1) is not well documented, and there is controversy over when and how to treat such patients, especially if they are only mildly symptomatic. Treatment of GD1 is inconvenient, very costly, and may result in undesirable side effects. We documented the clinical history of 31 untreated patients with GD1 followed in our clinic for 4\u201326 (median 15) years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a retrospective, observational study of the progress of untreated adult patients with GD1 followed by blood tests (haemoglobin, platelet counts, ferritin and chitotriosidase), organ volumes (spleen and liver), bone manifestations (through magnetic resonance imaging and dual X\u2010ray absorptiometry scans) and neurological and quality of life issues. Statistical analyses were performed with the use of the Student paired <jats:italic>t<\/jats:italic> test and the modified Wald test for 95% confidence intervals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found that the above parameters remained stable in most patients over a period of 4\u201326 (median 15) years. Five patients progressed from normal bone density to osteopenia and two from osteopenia to osteofibrosis; six were peri\u2010 or post\u2010menopausal females. The DS\u20103 was stable over time. Only four of the 31 patients were started on enzyme or substrate reduction therapy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results demonstrate that many patients with GD1, provided with close follow\u2010up by a specialist centre, can be followed for many years without requiring treatment and with no or minimal worsening of their GD1 manifestations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/imj.16503","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T12:39:24Z","timestamp":1724762364000},"page":"1661-1668","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The natural history of <scp>Gaucher<\/scp> disease type 1 in 31 patients over a median of 15\u2009years: a retrospective study"],"prefix":"10.1111","volume":"54","author":[{"given":"Siavash","family":"Piran","sequence":"first","affiliation":[{"name":"Mark Freedman and Judy Jacobs Program for Gaucher Disease Mount Sinai Hospital  Toronto Ontario Canada"},{"name":"Division of Hematology, Department of Medicine University of Toronto  Toronto Ontario Canada"},{"name":"Trillium Health Partners  Etobicoke Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graeme A. 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