How can Gaucher disease be cured?
Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.
How do you test for Gaucher disease?
An enzyme test called a beta-glucosidase leukocyte (BGL) test is the main tool that physicians use to diagnose Gaucher disease. This is because all patients with Gaucher disease will have low enzyme activity levels. Your physician can measure enzyme activity with a standard blood test.
What organs does Gaucher disease affect?
Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.
What age is Gaucher disease diagnosed?
The age at onset of Gaucher disease may vary according to Gaucher disease type and genotype. In cases of Gaucher disease Type 1, data from the ICGG Gaucher Registry indicated that overall mean age at disease onset (defined as age at onset, at diagnosis, or at recognition) for patients was 20.4 years.
How long do people with Gaucher disease live?
Many people with Gaucher disease have few symptoms and can expect a normal lifespan even without treatment. One study estimated life expectancy at birth for people with type 1 Gaucher disease to be 68 years, compared with 77 years in the general population.
What are the physical symptoms of Gaucher disease?
Symptoms of Gaucher disease can include:
- Enlarged spleen.
- Enlarged liver.
- Eye movement disorders.
- Yellow spots in the eyes.
- Not having enough healthy red blood cells (anemia)
- Extreme tiredness (fatigue)
- Bruising.
- Lung problems.
What are the symptoms of Gaucher disease?
What are the symptoms of Gaucher disease?
- Enlarged spleen.
- Enlarged liver.
- Eye movement disorders.
- Yellow spots in the eyes.
- Not having enough healthy red blood cells (anemia)
- Extreme tiredness (fatigue)
- Bruising.
- Lung problems.
Who gets Gaucher disease?
Anyone can have the disorder, but people with Ashkenazi Jewish (Eastern European) ancestry are more likely to have Gaucher disease type 1. Of all people of Ashkenazi (or Ashkenazic) Jewish descent, nearly 1 in 450 has the disorder, and 1 in 10 carries the gene change that causes Gaucher disease.
What is Gaucher disease caused by?
Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene. It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher.
What are the signs and symptoms of Gaucher disease?
What happens if Gaucher disease is left untreated?
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.
Who is most affected by Gaucher disease?
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds.