Type 1 Gaucher Disease monitoring| Information for patients and families

MONITORING

Gaucher disease management girl and mother speaking with doctor

Why does monitoring matter?

Type 1 Gaucher disease can slowly get worse over time – even if you feel fine and do not notice anything different. This disease affects each person in a different way. Some signs, like feeling tired or having pain in your bones or joints, can be subtle or easy to ignore. Seeing your doctor regularly helps your care-team find changes early. This helps them change your care if needed and may help prevent long-lasting problems.

What does monitoring include?

If you have type 1 Gaucher disease, your doctor will ask you to come in for regular check-ups. Your doctor will run blood tests, check the size of your spleen and liver, and take scans of your bones.

BLOOD TESTS

Blood tests can show:

Levels of your red blood cells
Levels of your blood clotting cells, called platelets
Levels of special markers that can help show how severe your disease is or if it is getting worse

Gaucher disease blood test icons needle and test tube yellow and blue

SPLEEN AND LIVER

Your spleen and liver can be measured with:

Magnetic resonance imaging (MRI) of the middle part of your body. You will lie on a bed that slides into the MRI machine. The machine uses strong magnets to take pictures of the inside of your body

Computed tomography (CT) or ultrasound if MRI is unavailable:

For a CT scan, you will lie on a bed that moves through a donut-shaped machine. The machine uses a small X-ray beam that goes around your body to take clear pictures
For an ultrasound, some special gel is put on your skin. A small tool called a probe takes pictures inside your body. This is the same kind of ultrasound that takes pictures of a baby before it is born

SKELETAL SCANS

Bone scans may include:

MRI
A dual-energy X-ray absorptiometry (DXA) scan, which takes pictures of your bones to check how strong
they are. It can also measure bone mineral levels

How often will I be monitored?

Most people with type 1 Gaucher disease have check-ups every 3 to 12 months. Type 1 Gaucher disease is different for everyone. Your check-up schedule will be specific to you. Talk to your doctor about how often you should come in.

What questions could I ask my doctor?

Your doctor is there to help you understand and manage your type 1 Gaucher disease. It can be helpful to think of some questions to ask before your appointments. If something is not clear, ask your doctor. You can also repeat back what you heard to make sure you understand it.

Here are some questions you could ask your doctor:

What blood tests will I need, and what do they check?

Will I need imaging tests, like MRI or DEXA scans?

How often should I come in for blood tests or scans?

What changes will you look for in my test results over time?

Are there things I can do at home to help track my condition between appointments?

Should I tell you about new symptoms right away, or wait until my next visit?

Monitoring Toolkit

Use this digital toolkit to easily track your symptoms and appointments. It also includes helpful discussion prompts to support meaningful conversations with your doctor.

Download

Download

KNOW, TALK, LEARN

If you have type 1 Gaucher disease, know that it can worsen over time – even if you are well. Talk to your doctor about any concerns or questions you may have. Attend all of your check-ups for tests and scans.

MONITORING & MANAGEMENT