Management of Gaucher disease Type 1
- Eliminate blood transfusion dependency
- Increase haemoglobin levels within 12‒24 months to >11.0 g/dL for women and children, and >12.0 g/dL for men
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- Increase platelet counts during the first year of treatment sufficiently to prevent surgical, obstetrical and spontaneous bleeding
- In patients with splenectomy: normalisation of platelet count by 1 year of treatment
- In patients with an intact spleen: achieve platelet count of ≥100,000/mm3 by 3 years of treatment
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- Lessen bone pain that is not related to irreversible bone disease within 1‒2 years
- Decrease bone marrow involvement, as measured by a locally used scoring system (e.g. Bone Marrow Burden Score or Düsseldorf Gaucher Score) in patients without severe irreversible bone disease at baseline
- Increase bone mineral density within 2 years in adult patients with a T-score below −2.5 at baseline
- Attain normal or ideal peak skeletal mass in children
- Normalise growth such that the height of the patient is in line with target height, based upon population standards and parental height, within 2 years of treatment
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- Avoid splenectomy (may be necessary during life-threatening haemorrhagic events)
- Alleviate symptoms due to splenomegaly: abdominal distension, early satiety or new splenic infarction
- Eliminate hypersplenism
- Reduce spleen volume to <2‒8-times normal (or, in the absence of volume-measurement tools, reduce spleen size) by Year 1–2, depending on baseline spleen volume
- Reduce the liver volume to 1.0‒1.5-times normal (or, in absence of volume-measurement tools, aim for normal liver size) by Year 1–2, depending on baseline liver volume
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- Improve scores from baseline as measured by a validated quality-of-life instrument within 2‒3 years or less, depending on disease burden
- Reduce fatigue (not anaemia-related) as measured by a validated fatigue-scoring system
- Improve or restore physical function for carrying out normal daily activities and fulfilling functional roles
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