Mark Freedman and Judy Jacobs Program for Gaucher Disease, Mount Sinai Hospital, Toronto, Ontario, Canada.
Division of Hematology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Intern Med J. 2024 Oct;54(10):1661-1668. doi: 10.1111/imj.16503. Epub 2024 Aug 27.
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 4-26 (median 15) years.
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-ray absorptiometry scans) and neurological and quality of life issues. Statistical analyses were performed with the use of the Student paired t test and the modified Wald test for 95% confidence intervals.
We found that the above parameters remained stable in most patients over a period of 4-26 (median 15) years. Five patients progressed from normal bone density to osteopenia and two from osteopenia to osteofibrosis; six were peri- or post-menopausal females. The DS-3 was stable over time. Only four of the 31 patients were started on enzyme or substrate reduction therapy.
Our results demonstrate that many patients with GD1, provided with close follow-up by a specialist centre, can be followed for many years without requiring treatment and with no or minimal worsening of their GD1 manifestations.
未经治疗的 1 型戈谢病（GD1）患者的自然病程尚未得到充分记录，对于何时以及如何治疗此类患者存在争议，尤其是当他们仅有轻度症状时。GD1 的治疗既不方便，费用又高，并且可能导致不良副作用。我们记录了在我们诊所接受随访 4-26 年（中位数 15 年）的 31 例未经治疗的 GD1 患者的临床病史。
这是一项回顾性、观察性研究，对未经治疗的成年 GD1 患者的进展进行了研究，检测指标包括血液检查（血红蛋白、血小板计数、铁蛋白和壳三糖苷酶）、器官体积（脾脏和肝脏）、骨骼表现（通过磁共振成像和双能 X 线吸收法扫描）以及神经和生活质量问题。使用学生配对 t 检验和修改后的 Wald 检验进行 95%置信区间的统计分析。
我们发现，在 4-26 年（中位数 15 年）的时间内，大多数患者的上述参数保持稳定。5 例患者的骨密度从正常变为骨质疏松，2 例从骨质疏松变为骨纤维化；6 例为围绝经期或绝经后女性。DS-3 随时间保持稳定。仅 31 例患者中的 4 例开始接受酶或底物还原治疗。
我们的研究结果表明，许多 GD1 患者在专家中心接受密切随访，可以在无需治疗的情况下随访多年，并且 GD1 表现无或仅有轻微恶化。
