Is Gaucher disease Jewish?
The most common Ashkenazi genetic disease is Gaucher disease, with one out of every 10 Ashkenazi Jews carrying the mutated gene that causes the disease. Doctors classify Gaucher disease into three different types, resulting from a deficiency of glucocerebrosidase (GCase) within the body.
What does it mean if you are a carrier of Gaucher disease?
If you are a carrier of Gaucher disease (pronounced go-SHAY), it means you do not have the disease but can pass the Gaucher gene to your children. People of all ethnic backgrounds may be carriers of Gaucher disease, but it is especially common among Ashkenazi (Eastern European) Jews.
How many people are carriers of Gaucher?
In the United States, there are an estimated 20,000 or more patients with Type I Gaucher disease. This disease is the most common genetic disorder in Jewish individuals of Central and Eastern European ancestry (Ashkenazic Jews). Approximately 1 in 18 Ashkenazi carry the gene for this disease.
How long is the average lifespan of a person 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.
How rare is Gaucher’s?
Worldwide, Gaucher disease affects 1 in 40,000 people, but its frequency is as high as 1 in 450 people among Jews of Ashkenazi (Eastern European) descent. Although it is present at birth, symptoms can appear at any age.
Is Gaucher disease fatal?
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.
Can Gaucher disease be misdiagnosed?
A lack of physician awareness of the early signs and symptoms of Gaucher disease among non-specialists may lead to misdiagnosis, diagnostic delays and, ultimately, the development of irreversible complications for patients.
Is Gaucher disease recessive or dominant?
Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.
Does Gaucher disease hurt?
Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment.
Are you born with Gaucher disease?
Gaucher disease is an autosomal recessive disorder. That means a person must receive the Gaucher gene from both parents in order to have the disease. Most genes exist in pairs, with one coming from the mother and the other from the father.