Many people are not diagnosed with Gaucher disease (pronounced go-SHAY) until adulthood. It is important for adults with Gaucher disease to see a specialist regularly for proactive monitoring of conditions related to Gaucher disease.
Adult Onset of Gaucher Disease
Gaucher disease varies widely in how it affects different people. Some have obvious signs and symptoms of Gaucher disease early on, while others have a mild form of the disease or no symptoms at all.
The onset of Gaucher disease signs and symptoms can happen anytime, and some people are not diagnosed until they are adults. Early onset osteoporosis may be one of many signals, but many doctors are not even aware of Gaucher disease. As a result, few doctors think to test for Gaucher disease.
Adult Diagnosis of Gaucher Disease
Testing for Gaucher disease involves a standard blood test available at a hospital or doctor’s office. Since most doctors are unfamiliar with Gaucher disease, you may need to ask for this test. The test is called a beta-glucosidase leucocytes (BGL) test.
Reasons you might request a BGL test include if you:
- Have a family history of Gaucher disease or known carrier status
- Are of Ashkenazi (Eastern European) Jewish descent, where the disease occurs in 1 in 450
- Show signs of early onset osteoporosis or have spontaneous bone fractures
- Experience other symptoms of Gaucher disease in combination with the above factors, including bleeding and bruising problems, fatigue and enlarged spleen or liver
Find out whether you may be at risk by learning about Gaucher disease inheritance and genetics.
Health Conditions Related to Gaucher Disease
Gaucher disease increases your risk of other conditions that include:
- Osteoporosis: Gaucher disease leads to a loss of mineral content in bones, weakening them and making them more likely to break.
- Arthritis: Many patients with Gaucher disease must deal with bone and joint pain. Left untreated, Gaucher disease can cause severe arthritis and joint destruction.
- Parkinson disease: Carriers and patients with Gaucher disease have a slightly increased risk of developing Parkinson disease later in life. However, most will never develop Parkinson.
- Certain cancers: Gaucher disease may increase your risk of myeloma (a blood cancer) and liver cancer.
Learn more about Gaucher disease and associated conditions.
Monitoring Your Health
If you have Gaucher disease, it is critical that you see a specialist regularly who can proactively monitor your health. For many patients, this may require only one visit a year.
A Gaucher specialist can monitor your spleen and liver volume, bone density and blood counts. Proactive monitoring is key to early diagnosis of related conditions and ensures that your medication dosage is sufficient to minimize symptoms and damage to your body. Find out more about optimizing your health with Gaucher disease.
Can You Drink Alcohol with Gaucher Disease?
You may wonder if alcohol affects patients with Gaucher disease differently, since the disease affects the liver. While there have not been any direct studies of alcohol use and Gaucher disease, you may want to limit your consumption. Excess alcohol also increases fracture risk in patients with osteopenia (bone loss) or osteoporosis.
If you experience liver complications related to Gaucher disease, experts say you should restrict or eliminate alcohol use entirely. For patients with a more mild form of the disease, the occasional drink is likely OK. Ultimately, this is a question for your Gaucher specialist. Locate a specialist with our Gaucher disease treatment finder.