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How long can you live 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.
Why is there no cure for Gaucher disease?
Since inherited genetic disorders result from an altered sequence of genes located on chromosomes within each cell in your body, a cure must permanently reverse the underlying genetic mutations that cause Gaucher disease(1). There is currently no cure for 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 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 signs and symptoms of 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 do you need to know about Gaucher disease?
Overview. Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs,particularly your spleen and liver.
Can Gaucher’s disease be prevented?
Gaucher disease Prevention and Treatment. treatment. General: There is currently no cure for Gaucher disease. People with types 1 and 3 Gaucher disease typically receive enzyme replacement therapy, which helps reduce the buildup of glucocerebrosides in the body.
How does Gaucher disease affect the body?
Signs and symptoms. The results of Gaucher disease are widespread in the body and include excessive growth of the liver and spleen (hepatosplenomegaly), weakening of bones, and, in acute cases, severe nervous system damage. Many patients experience “bone crises,” which are episodes of extreme pain in their bones.
How does Gaucher’s disease affect the victim?
Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds. More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures.