If you have type 1 Gaucher disease, your doctor will ask you to attend regular check-ups to run blood tests, measure your spleen and liver, and perform skeletal scans to monitor the progression of the disease. This usually happens every 3–24 months and your doctor will guide you.
Blood tests will measure:
• Hemoglobin and platelet count
• Levels of specific biomarkers, which are biological markers that can indicate the severity and progression of the disease.
Your spleen and liver can be measured with:
• Magnetic resonance imaging (MRI) of the abdomen, which uses powerful magnets to image soft tissues of the body
• Computed tomography (CT) or ultrasound if MRI is unavailable. During a CT scan, the person lies on a bed that moves through a donut-shaped structure of the scanner as a narrow beam of X-rays rotates around the body to generate images. For ultrasound, probes that produce high frequency sound waves are placed on the person’s skin after a gel is applied to produce an image of inside the body.
Skeletal scans may include:
• Dual-energy X-ray absorptiometry (DXA) that can measure bone density.
If you have type 1 Gaucher disease, know that it is a progressive disease that requires regular monitoring, talk to your doctor about any concerns you may have, and attend regular appointments as advised by them to undergo tests and scans.