Gaucher disease often affects bones and the marrow inside them. You may feel reasonably healthy, yet the damaging effects of Gaucher disease on the bones can occur without any notable signs or symptoms.
Over time, the disease can weaken bones and joints. This can cause extreme pain and problems moving and functioning. The illness can also cause bones to break more easily.
Bone problems can become permanent and lead to disability (for example, hip and other joint replacements or spinal compression). This makes it important for you to have thorough tests of your bones at least once a year. Finding and treating bone problems early may help you live with less pain and prevent disability.
To learn more about how healthy bones can be maintained
Test 1: X-ray
An x-ray detects fractures and late bone problems. However, it is not the best way to assess changes in the bone marrow, the strength of bones or early signs of bone disease.
Test 2: Magnetic resonance imaging (MRI) of the bones
MRI uses magnets and radio waves to make pictures of parts of your body. An MRI is the most helpful test to assess to what extent Gaucher cells have built up in the marrow and caused changes in the bone. This makes MRI a powerful and sensitive tool for ongoing monitoring of bone. MRI is a sensitive tool that does not use radiation.
Test 3: Dual-energy x-ray absorptiometry (DEXA)
A buildup of Gaucher cells in bones can make the bones thinner, weaker than normal, and prone to fracture. A DEXA scan measures bone mineral density (BMD), which tells your bone strength. It is the “gold standard” for measuring BMD.
Find out more about the monitoring tests for your blood and liver and spleen.