AI Article Synopsis
- The study focuses on the natural history of untreated type 1 Gaucher disease (GD1) in 31 patients, revealing uncertainty about the need for treatment, especially in mildly symptomatic cases.
- It’s a retrospective analysis that tracked clinical parameters like blood tests, organ sizes, and bone health over a median period of 15 years, showing most parameters remained stable.
- The results suggest that many patients can be monitored long-term without significant disease progression or the need for treatment, highlighting the importance of specialist care for managing GD1.
Article Abstract
Background And Aims: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
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Article Synopsis
- The study focuses on the natural history of untreated type 1 Gaucher disease (GD1) in 31 patients, revealing uncertainty about the need for treatment, especially in mildly symptomatic cases.
- It’s a retrospective analysis that tracked clinical parameters like blood tests, organ sizes, and bone health over a median period of 15 years, showing most parameters remained stable.
- The results suggest that many patients can be monitored long-term without significant disease progression or the need for treatment, highlighting the importance of specialist care for managing GD1.
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