Gaucher Disease and Associated Conditions

Gaucher disease (pronounced go-SHAY) increases your risk of developing osteoporosis, Parkinson disease and certain cancer types. Most patients do not develop Parkinson disease or cancers related to Gaucher disease, and treatment can decrease the risk for osteoporosis.

If you or a loved one are at risk or experiencing symptoms, it is critical to get tested. Working with a Gaucher specialist allows doctors to proactively monitor your health for these conditions. Find out how to get testing for Gaucher disease.

Gaucher Disease and Parkinson Disease

Patients with Gaucher disease and carriers have a somewhat increased risk of developing Parkinson disease later in life. However, most people with Gaucher disease never develop Parkinson disease.

In the general population, individuals older than 60 have a 2 to 4 percent chance of developing Parkinson disease. According to physicians, the risks are still relatively low for Gaucher disease carriers and patients:

  • Patients with Gaucher disease: The risk of developing Parkinson disease by age 70 is roughly 5 percent, rising to about 8 percent by age 80.
  • Gaucher disease carriers: The risk of developing Parkinson disease by age 70 is about 3 percent, increasing slightly by age 80.

Research shows that careful testing and imaging studies can identify early onset Parkinson disease in patients with Gaucher disease. Patients with Parkinson disease usually benefit from Parkinson disease medications. Researchers are investigating new medications for treating Parkinson disease in patients with Gaucher disease. Learn more about Gaucher and Parkinson disease research and testing for Gaucher disease.

Gaucher Disease and Cancer

Gaucher disease increases your risk of developing certain cancers, including:

  • Blood cancers such as myeloma and lymphoma: After more than 20 years of treating patients with enzyme replacement therapy (ERT), some Gaucher specialists believe they are now seeing fewer cases of myeloma than expected in treated patients. However, more research is needed to determine whether Gaucher disease treatment reduces the risk of myeloma.
  • Liver cancer (hepatocellular carcinoma): Doctors don’t yet know if Gaucher disease treatment reduces this risk.

Testing and treatment for Gaucher disease is important because it helps physicians proactively monitor your health for these conditions. Patients with Gaucher disease who are over age 50 typically receive special screening and blood tests to identify and treat problems early.

Gaucher Disease and Osteoporosis

Gaucher disease causes a loss of mineral content that keeps the bone structure strong enough to absorb the shocks of movement and bearing weight. This problem can lead to early onset osteopenia (bone loss) and osteoporosis, with increased bone brittleness and fragility increasing fracture risk.

Gaucher disease treatment reduces your risk of developing osteoporosis. Regular weight-bearing exercise and bisphosphonate medications such as Boniva® (ibandronic acid) may also help. Patients with Gaucher disease need regular MRI scans and bone density tests so physicians can monitor bone health. Learn more about creating a Gaucher disease treatment team.

How Gaucher Disease Testing and Treatment Can Help

Diagnosing Gaucher disease is the first step to early identification and proactive management of conditions like Parkinson’s disease, cancer and osteoporosis. Use our Gaucher disease treatment finder to locate a specialist.

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