Question: Who Does Gaucher Disease Affect?

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 is Gaucher disease diagnosed?

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.

How is Gaucher disease prevented?

There is no way to prevent Gaucher disease if you have the gene mutations. It’s wise to have testing if you are at risk. Early treatment may prevent damage to bones and organs from Gaucher disease type 1. If a DNA test shows that you’re a Gaucher carrier, and you’re planning on starting a family, talk to your provider.

What is Gaucher disease caused by?

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 does Gaucher disease look like?

If you have Gaucher disease, your body may be affected as follows: Swollen belly due to spleen and liver enlargement. Bone pain and easily fractured bones. Anemia (low blood counts) and fatigue.

How does Gaucher disease affect someone’s life?

The results indicated that bone pain and chronic fatigue interfered with school, job and social activities and were the most debilitating symptoms of Gaucher disease. Most patients experienced a significant increase in energy level from therapy and reported significant improvements in quality of life.

Who treats Gaucher disease?

Hematologist. A hematologist specializes in treating blood disorders. A hematologist can help track blood counts and monitor for blood conditions related to Gaucher disease, including: Clotting disorders.

What is the life expectancy of someone with Gaucher disease?

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.

At what age is Gaucher disease diagnosed?

Although the disease can be diagnosed at any age, half of patients are under the age of 20 at diagnosis. The clinical presentation is heterogeneous with occasional asymptomatic forms.

Does Gaucher disease cause weight gain?

People with GD may be at higher risk for certain medical issues, and a nutritious diet can keep them on a healthy path. Weight gain: People often gain weight after starting ERT, which can lead to an increase in fatty liver and a risk of developing fatty liver disease.

Is Gaucher disease an autoimmune disease?

A multicenter study shows that people with type 1 Gaucher disease (GD) may have higher levels of serum autoantibodies, but these patients showed no clinical signs of autoimmune disorders.

Who is most likely to get 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.