How is Gaucher disease diagnosed?

Diagnosis begins when a doctor suspects a patient may have Gaucher disease based on certain clinical signs and symptoms, risk factors, and family medical history. Doctors can confirm Gaucher disease with a blood or saliva test.¹

Gaucher disease can be diagnosed using an enzyme or genetic test, usually with a blood or saliva sample. Gaucher disease is caused by abnormal changes to the DNA, called pathogenic variants, in a gene called GBA1. There are over 400 pathogenic variants in the GBA1 gene that can cause the disease, and some are more common than others. These pathogenic variants cause an enzyme called glucocerebrosidase, or GCase, to not work properly—leading to signs of the disease.^1,2

Because it is rare and symptoms can vary from person to person, Gaucher disease can be diagnosed late. It is important for anyone with symptoms of Gaucher disease to talk to their doctor and ensure they get tested. The sooner Gaucher disease is properly diagnosed, the earlier a patient can begin disease management. ^2,3

Testing and Screening for Gaucher disease

The importance of carrier screening for Gaucher disease

Because Gaucher disease can be passed down from parents to children, it can affect several family members within a single generation. If someone in your family has been diagnosed with Gaucher disease, it’s important for direct relatives to get tested—even if they don't have symptoms—to find out whether they are carriers. Carrier screening can help families understand their risk of passing Gaucher disease on to children. Some people may be at a higher risk of having Gaucher disease or being a carrier than others^.1,4

People who should consider screening include:

• Anyone with a family member who has Gaucher disease
• People of Ashkenazi Jewish descent, a population in which type 1 Gaucher disease is more common
• Carriers who are pregnant or planning for a baby

Additional types of testing in Gaucher disease

Because Gaucher disease is rare and symptoms can vary, doctors might not recognize it right away or may confuse it with a more common condition. Additional tests may be performed to help rule out other conditions or to more closely monitor the health of someone with Gaucher disease. In some cases, a specialist such as a hematologist (blood doctor) or an orthopedist (bone doctor) may be involved.^1,4 This downloadable lab locator can help you and your healthcare team find diagnostic testing locations for Gaucher disease in the United States.

Other types of tests for Gaucher disease:

• Bone marrow test: Rule out other conditions
• Bone imaging: Check the health and density of bones
• MRI or ultrasound: Examine the liver or spleen

Bone marrow testing is not required to diagnose Gaucher disease, but may be used if another condition is suspected. Sometimes a bone marrow test may find Gaucher cells, which are a hallmark of the disease and can lead to further testing to confirm the diagnosis.^2,4

What are Gaucher cells?

Gaucher cells are blood cells that become abnormal in people with Gaucher disease because they build up a fatty substance the body can’t break down. These abnormal cells can spread into the bone marrow, spleen, liver, and other organs where they collect, potentially causing enlarged organs, weak bones, and other health problems. Finding Gaucher cells may help guide additional testing, but they are not used to confirm a diagnosis on their own.^2,5

Could it be Gaucher disease? Test to confirm

A healthcare professional may test for Gaucher disease if certain signs and symptoms appear. Common reasons for testing include an enlarged spleen (splenomegaly), a low blood platelet count (thrombocytopenia), or after ruling out other conditions like certain blood cancers.⁴

Symptoms of Gaucher disease can look like other, more common diseases. Some people with Gaucher disease may be misdiagnosed at first, sometimes leading to years of frustration and unexplained health issues. It is important to ask your doctor about testing—especially if you notice signs and symptoms that match Gaucher disease. Early diagnosis can improve outcomes for some patients.^3,4

Additional support and resources are available to help you learn more about Gaucher disease, connect with patient communities, and help you become a stronger advocate for your health.