Gaucher disease

What is it?

If you have just heard that you, your child, a family member or a friend is suffering from Gaucher disease, this is probably the first time that you have heard about this condition. Gaucher's disease (pronounced gooshé) is a relatively rare condition that is little known to the general public. Until recently, many people from the healthcare sector knew little about the disease. It goes without saying that the lack of familiarity and information caused the necessary anxiety in families where someone was suffering from Gaucher disease.

A lot has changed in recent years. Doctors and other health professionals pay more attention to Gaucher disease. The condition is gradually becoming an important research topic in the field of genetics, orthopedics (the doctrine of bones) and hematology (the study of blood). The research conducted over three decades has led to new treatment methods, including the development of drugs that can address the main symptoms of the disease.

People suffering from Gaucher disease and their relatives can now rely on a wide range of resources and support services. This website has been specially developed to help you and your family to discuss Gaucher disease with your doctor and other health professionals. Here you will find an overview of Gaucher disease, the impact of the disease on the people suffering from it, how you can deal with symptoms and which options are available for treatment and support.

 

How many people are suffering from Gaucher disease?

Less than one in 40,000 to 60,000 people suffer from Gaucher disease. This amounts to less than 10,000 people worldwide.

With Jews of Askenazi (Eastern European) origin the frequency is higher: up to 1 in 450 people. The higher frequency of Gaucher disease in this population group led to the misconception that Gaucher disease is a "Jewish genetic disorder". This in untrue, as individuals from all ethnic groups or races can suffer from Gaucher disease. Although Gaucher disease is relatively rare, it occurs as frequently as haemophilia in the total population.

Gaucher disease is the most common form of a group of disorders called lysosomal storage diseases. In lysosomal storage diseases, certain fats or carbohydrates are accumulating in cell compartments called lysosomes. Other examples of lysosomal storage diseases are MPS I (also known as Hurler's syndrome, Hurler-Scheie or Scheie), Fabry's disease, Niemann-Pick's disease and Tay-Sachs disease.

 

 

Men and women have the same risk

Copies of the glucocerebrosidase gene are carried by a chromosome that does not determine the sex of an individual. People normally have 46 chromosomes, including the two that determine sex (either 2 "X" chromosomes in women, or an "X" and a "Y" chromosome in men). The other 22 pairs of chromosomes are called "autosomes". The gene for the enzyme glucocerebrosidase is carried by one of the autosomal chromosome pairs. Gaucher disease is therefore an autosomal recessive disorder. "Recessive" means that an individual must inherit two mutated copies of the gene, ie one from each parent, to develop the disease.