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How is type 1 Gaucher disease diagnosed?

To diagnose all three types of Gaucher disease, a doctor who is a specialist will run some tests at a hospital. One of the tests the specialist might do is a blood test to check the level of the enzyme glucocerebrosidase (GBA). If the level is low, it’s a sign that a person might have Gaucher disease.

Some people will have a bone marrow aspiration to be tested for Gaucher disease. This is when some cells are taken from the bone marrow. These cells are examined under a microscope to see if they contain any Gaucher cells. This test also helps to rule out other causes for why people have been feeling unwell. Blood tests can also show how well the bone marrow and liver are working.

The team of doctors might do some other tests, like an ultrasound scan to check the size of the liver and spleen or x-rays and bone scans to see if there are any problems with the bones. For diagnosis of type 2 or 3 Gaucher disease, people might have a magnetic resonance imaging (MRI) scan of their brain to check for Gaucher cells there. If the tests show they have Gaucher disease, their doctors will decide on the best way to help them.

Type 1 Gaucher's disease can be suspected by its symptoms and whether or not you have family members with the disease. Bone pain, enlarged liver or spleen, bleeding or bruising, or even neurologic problems may indicate the disease. An MRI or CT scan may be done. Suspicions can be confirmed with a blood test. Doctors will look to see whether or not you have the normal level of the enzyme glucocerebrosidase in your blood. Low levels of the enzyme signify the disease.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.