Can you live a normal life with Gaucher disease?
Gaucher disease (pronounced go-SHAY) has a wide variety of symptoms. You may be relatively symptom-free, or you may experience more severe symptoms. If you or a family member has Gaucher disease, know that many people live full lives thanks to advances in Gaucher disease treatment.
Is Gaucher disease life threatening?
The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy.
How serious is Gaucher disease?
Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die. Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue.
What happens to people with Gaucher disease?
It is a disorder passed from parents to children (inherited). It causes fatty substances called lipids to build up in certain organs such as the spleen and liver. Organs can become very large and not work well. It can also affect the lungs, brain, eyes, and bones.
Who is most likely to get Gaucher disease?
Anyone can have the disorder, but people with Ashkenazi Jewish (Eastern European) ancestry are more likely to have Gaucher disease type 1. Of all people of Ashkenazi (or Ashkenazic) Jewish descent, nearly 1 in 450 has the disorder, and 1 in 10 carries the gene change that causes Gaucher disease.
What part of the body does Gaucher disease affect?
When you have Gaucher disease, you are missing an enzyme that breaks down certain types of fatty substances (lipids). These lipids can build up in organs such as your spleen and liver. This condition can cause many different symptoms. Your spleen and liver may get very large and stop working normally.
What is the life expectancy of Gaucher disease type 2?
Because of the devastating brain damage, Gaucher disease type 2 is typically fatal within the first 2 years of life. While Gaucher disease type 2 is currently untreatable, researchers continue to look for answers. Learn more about Gaucher disease type 2.
How does Gaucher disease affect the nervous system?
Type 2 and 3 do affect the nervous system. Type 2 causes serious medical problems beginning in infancy, while Type 3 progresses more slowly than Type 2. There are also other more unusual forms that are hard to categorize within the three Types. Gaucher disease is caused by changes (mutations) in a single gene called GBA.
What are the symptoms of Gaucher disease Type 3?
Type 3 has a later and more gradual onset than type 2, and symptoms usually appear in childhood. Symptoms resemble those of Gaucher disease type 1, with the addition of slowly progressing neurological problems. Neurological symptoms may include:
How often does Gaucher disease occur in Ashkenazi Jews?
Type 1 is found more frequently among individuals who are of Ashkenazi Jewish ancestry. Type 1 Gaucher disease is present 1 in 500 to 1 in 1000 people of Ashkenazi Jewish ancestry, and approximately 1 in 14 Ashkenazi Jews is a carrier. Type 2 and Type 3 Gaucher disease are not as common. What is Gaucher disease?