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
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
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
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)
