Quick Answer: What Is Gaucher Disease?

Where are Gaucher cells found?

Gaucher cells most often accumulate in the spleen, liver, and bone marrow.

However, they may also collect in other tissues, including the lymphatic system, lungs, skin, eyes, kidney, heart, and in rare instances, the nervous system..

What are the 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.More items…

How is Gaucher disease prevented?

You cannot prevent Gaucher disease. If you have Gaucher disease or have a family history of the disorder, talk to a genetic counselor to help determine your at-risk family members.

What type of doctor treats Gaucher disease?

Few doctors exclusively treat patients with Gaucher disease because it is so rare, so this person may be a hematology, oncology, liver, genetic or orthopedic specialist. Primary care physician (PCP): Your PCP plays a key role in coordinating your care with specialists.

Is Gaucher disease an autoimmune disease?

Click here to subscribe to the Gaucher Disease News Newsletter! 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.

What is the treatment for Gaucher disease?

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.

At what age is Gaucher disease diagnosed?

Affected Populations Individuals with Gaucher disease type 1 usually exhibit symptoms during adolescence, but the age of onset ranges from childhood to adulthood. The age of onset for Gaucher disease type 2 is during early infancy.

What part of the body 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.

How many types of Gaucher disease are there?

Articles OnGaucher Disease: A Rare Genetic Disorder There are three main forms of the disease: types 1, 2, and 3. No matter which kind it is, the reason you have Gaucher is that you were born with a change in one of your genes called a mutation.

Is Gaucher disease curable?

While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don’t need treatment.

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.

What is Hunter syndrome?

Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn’t have enough of the enzyme iduronate 2-sulfatase.

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.

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.

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.

How do you get Gaucher disease?

Gaucher disease is caused by changes (mutations) in a single gene called GBA. Mutations in the GBA gene cause very low levels of glucocerebrosidase. A person who has Gaucher disease inherits a mutated copy of the GBAgene from each of his/her parents.