General disease information

What is Gaucher disease?

Gaucher disease is a rare illness which can affect both males and females. It is a genetic condition (see 'Inheriting Gaucher disease') which means it is passed down from parents to their children. It was named Gaucher disease after the French medical student that first described it in 1882 – Philippe Gaucher.

Gaucher disease affects people in different ways. It only has a small effect on some people and may not get noticed until they get older. Other people have a lot of health problems, and these can start soon after birth.

One of the most common early problems is getting a big belly which is caused by the spleen getting bigger. The spleen helps recycling blood cells and fight bugs in the body.

Other common problems are pains in bones and joints, feeling tired, and bleeding or getting bruises easily. Gaucher disease can also affect liver, lungs and brain.

Although there is no cure for Gaucher disease, there are medicines and treatments that can help with the different health problems.

 

What causes Gaucher disease?

Enzymes are substances produced by cells in the body. They help chemical reactions within cells to take place. There are many different enzymes, which have different actions and allow the body to function normally.

One enzyme called acid-β glucosidase is important for the breakdown of a fatty substance called glucosylceramide (or GL-1) from some of our white blood cells (called macrophages). When the body does not make enough of the enzyme, GL-1 builds up in parts of the cells called lysosomes. This build up makes the cells bigger. These big cells are called ‘Gaucher cells’.

Gaucher cells can be found in many organs of the body like the spleen, liver and bone marrow.

 

‘Gaucher cells’ swollen with glucosylceramide

Normal macrophageGaucher cell
Normal macrophageGaucher cell
No accumulation in the lysosomes.Macrophage with accumulated glucosylceramide in the lysosomes

Images courtesy Prof. J.A. Barranger.

The Gaucher cells are not able to work normally and as they build up in bone marrow and organs, this leads to the health problems in different parts of the body. People with Gaucher disease all have very different health problems, and will need careful support from doctors and nurses in special Gaucher disease clinics. 

 Understanding key words Enzyme – a chemical produced by the body with a specific job, for example to help break down food

Symptom – complaints which make patients go see a doctor.

Sign – things elicited during clinical examination (such as abdominal organ enlargement)

Acid-β glucosidase – an enzyme (sometimes shortened to GBA) which breaks down a particular type of fatty substance, glucosylceramide.

Glucosylceramide – the fatty substance that is normally broken down by acid-β glucosidase, but in Gaucher disease is stored up and damages the cells

Macrophage – a type of white blood cell that are responsible for protecting the body from ‘foreign invaders’ such as bacteria and viruses and breaking down substances

Lysosome – a part of the cell that contains enzymes involved in breaking down substances

Lysosomal storage disorder – one of about 50 rare diseases caused by problems in the lysosomes