- Who is affected by Gaucher disease?
- What type of doctor treats Gaucher disease?
- Does Gaucher disease cause weight gain?
- Is Gaucher disease an autoimmune disease?
- What is the life expectancy of someone with Gaucher disease?
- What does pain from the spleen feel like?
- How is Hunter syndrome prevented?
- Which ethnic group has the highest incidence of Gaucher disease?
- What is the cause of Gaucher disease?
- What are the symptoms of Gaucher disease?
- How do you test for Gaucher disease?
- How is Gaucher disease prevented?
- What are 2 disorders that only affect males?
- What is the life expectancy of a person with Hunter syndrome?
- What is Hunter syndrome?
- Can Gaucher disease be cured?
- Is Gaucher disease hereditary?
Who is affected by 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 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.
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?
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 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 does pain from the spleen feel like?
Spleen pain is usually felt as a pain behind your left ribs. It may be tender when you touch the area. This can be a sign of a damaged, ruptured or enlarged spleen.
How is Hunter syndrome prevented?
Can Hunter syndrome be prevented? Because it is genetic, you cannot prevent Hunter syndrome. People who have a child with Hunter syndrome should talk to a genetic counselor before having another baby. This specialist can help parents understand the chances of passing the disease on to another child.
Which ethnic group has the highest incidence of Gaucher disease?
Gaucher disease is the most common genetic disorder of persons of Ashkenazic Jewish ancestry, where the incidence may be as high as 1 in 450 births.
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.
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 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 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 are 2 disorders that only affect males?
This is why so many male-only diseases are attributable to defective genes on the X chromosome.” Such diseases include Duchenne muscular dystrophy, hemophilia and Hunter syndrome, which causes dwarfing, abnormal bones and mental retardation in males but usually does not affect females who carry the same mutated gene.
What is the life expectancy of a person with Hunter syndrome?
No cure is available for Hunter syndrome. The most severe cases can be life-threatening, with life expectancy typically between 10 and 20 years. People with mild cases of the disease typically live longer into adulthood.
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.
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.
Is Gaucher disease hereditary?
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.