Question: What Are Symptoms Of Gaucher Disease?

How do you know if you have Gaucher disease?

Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia ), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis..

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.

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?

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.

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.

How would I know if I have an enlarged spleen?

Symptoms you may experience with an enlarged spleen include: pressure or pain in the left upper part of your abdomen (near the stomach), feeling full without eating a large meal, or pain your left shoulder blade or shoulder area when taking a deep breath.

What treatments are available to someone suffering from this genetic disorder?

For example, a genetic disorder associated with a heart defect might be treated with surgery to repair the defect or with a heart transplant. Conditions that are characterized by defective blood cell formation, such as sickle cell disease, can sometimes be treated with a bone marrow transplant.

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.

What is the life expectancy of someone with Morquio syndrome?

Prognosis. The lifespan of patients with Morquio syndrome is variable and depends on the subtype. Type A is generally severe, with a life expectancy in the 20s to 30s. In 2016, a man with Morquio syndrome died at the age of 81.

What is the cause of Gaucher disease?

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.

Is Gaucher’s 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.

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.

Who does Gaucher disease affect?

Gaucher disease can affect anyone, occurring in up to 1 in 40,000 live births in the general population. Gaucher disease is more common among Jews of Ashkenazi (Eastern European) descent, occurring in approximately 1 in 450 within this population.

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.

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.

What is Gaucher disease Type 2?

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

Where is your spleen located in the body picture?

The spleen is an organ in the upper far left part of the abdomen, to the left of the stomach. The spleen varies in size and shape between people, but it’s commonly fist-shaped, purple, and about 4 inches long. Because the spleen is protected by the rib cage, you can’t easily feel it unless it’s abnormally enlarged.