Question: What Part Of The Body Does Gaucher Disease Affect?

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.

What are the causes of Gaucher disease?

Gaucher disease is caused by low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside. Gaucher cells are normal scavenger cells called macrophages that become full of unprocessed glucocerebroside.

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 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.

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.

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.

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 does Gaucher mean?

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.

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.

Why is it important to diagnose type I Gaucher disease as soon as possible after birth?

Early identification and treatment often allows children with Gaucher disease types 1, 3 and cardiovascular form to live healthier lives with fewer complications. This is why newborn screening for Gaucher is so important. Even with treatment, all forms of Gaucher are usually associated with a shortened lifespan.

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.

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 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.

What is the life expectancy of someone with Morquio syndrome?

Morquio syndrome includes mild, moderate, and severe forms. Although all forms are characterized by skeletal disease, individuals affected by milder cases may live over 70 years, while severe cases do not typically live beyond age 30.

What are the effects of Gaucher disease?

Gaucher disease is an inherited genetic disorder. It causes bone pain, anemia, enlarged organs, a swollen, painful belly and bruising and bleeding problems. There are three types of the disease. Some types of Gaucher disease can lead to severe brain damage and death.

How is Gaucher’s 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.

What are the signs and symptoms of Gaucher’s 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…

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 genetic?

Gaucher disease is inherited in families in an autosomal recessive manner. Normally, a person has two copies of the genes that provide instructions for making the enzyme, glucocerbrosidase. For most individuals, both genes work properly. When one of the two genes is not functioning properly, the person is a carrier.