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Patients with Gaucher disease should be regularly monitored with blood tests, measurement of the viscera (spleen and liver), and skeleton scans.1 The monitoring interval, which is usually every 6-24 months, depends on the recommendations of the healthcare provider, the patient's disease, and/or treatment.1

Blood tests

Blood tests are often used to monitor disease progression and measure a patient’s:1-2

  • Hemoglobin count
  • Platelet count.

Additionally, the serum levels of several biological markers indicate disease severity and progression:1-3

  • Glucosylsphingosine (lyso-Gb1/lyso-GL1)4
  • Tartrate-resistant acid phosphatase (TRAP)1
  • Chitotriosidase (CHIT1)1,4
  • Angiotensin-converting enzyme (ACE)1
  • Chemokine ligand 18 (CCL-18).1,4
Visceral volumes
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Visceral volumes

Visceral volumes can be assessed with:

  • Volumetric MRI (since repeat assessment is routine in Gaucher disease)1,2
  • CT or ultrasound can be used when MRI is unavailable.1,2
Skeletal scans
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Skeletal scans

Skeletal scans are used to detect bone marrow infiltration and bone disease and can be assessed with:

  • MRI is particularly useful to identify bone infarction and necrosis2
  • Dual-energy X-ray absorptiometry (DEXA) is the gold standard method for assessing bone mineral density.2
Girl at a doctor's appointment for her check up

Management and Treatment options

Healthcare providers can work with patients to help manage their type 1 Gaucher disease symptoms.5–7 In addition, treatments are available for type 1 Gaucher disease:5

  • Enzyme replacement therapy (ERT) infusion
  • Oral treatment with a substrate reduction therapy (SRT)
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What is type 1

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