What is Gaucher disease?

A rare inherited disorder that can affect different parts of the body.

Overview

Gaucher disease is a rare, inherited disorder caused by reduced activity of an enzyme called glucocerebrosidase (GCase).

This enzyme helps cells break down a fatty substance called glucosylceramide (glucocerebroside). When there is not enough enzyme activity, glucosylceramide and related substances can accumulate inside certain cells.

The build-up occurs particularly in the spleen, liver and bone marrow and can also affect the bones. In some forms of Gaucher disease, the brain and nervous system are also affected.

What causes Gaucher disease?

Gaucher disease is caused by changes in the GBA1 gene, which provides instructions for making the glucocerebrosidase enzyme.

Gaucher disease is a type of lysosomal storage disorder. Lysosomes are structures inside cells that help break down and recycle substances. When glucocerebrosidase activity is reduced, substances that would normally be broken down can accumulate within cells. The cells containing these accumulated substances are known as Gaucher cells.

Changes in the
GBA1 gene

→

Reduced activity of
glucocerebrosidase
(GCase)

→

Build-up of
glucosylceramide
in cells

→

Gaucher cells

How does Gaucher disease affect the body?

Gaucher disease can affect different parts of the body. The effects and severity vary from person to person.

Blood

Reduced numbers of red blood cells or platelets can occur.

Spleen and liver

The spleen and liver can become enlarged.

Bones

Bone involvement can include reduced bone density, bone pain and other complications.

Brain and nervous system

Neurological involvement occurs in types 2 and 3 Gaucher disease.

The three main types of Gaucher disease

There are three main clinical types of Gaucher disease. They are distinguished by whether the brain and nervous system are affected and by the age and pattern of disease progression.

Type 1

The most common form

Type 1 Gaucher disease does not generally involve the brain or nervous system. It can affect the blood, spleen, liver and bones, and its severity varies between individuals.

Type 2

A rare, rapidly progressive form

Type 2 Gaucher disease involves the brain and nervous system and usually begins during infancy. It has a rapidly progressive course.

Type 3

A chronic form with neurological involvement

Type 3 Gaucher disease also affects the brain and nervous system, but generally progresses more slowly than type 2. It usually begins during childhood.

Gaucher disease is different for everyone

Gaucher disease exists on a broad clinical spectrum. Some people may have few or no noticeable symptoms, while others experience significant complications. The age at which symptoms appear, the organs affected and the rate at which the condition progresses can vary considerably. This is why understanding an individual’s form of Gaucher disease and receiving appropriate specialist care is important.

Greater understanding today, a brighter tomorrow.

Explore more about Gaucher disease

Find detailed information on the topics below.

Types & Symptoms

Genetics & Inheritance

Diagnosis

Treatment Options

FAQs

About Gaucher

Registered Charity Number: 1192011

Company Limited by Guarantee Registered in England & Wales No. 06653373

RESOURCES

About

GET INVOLVED

Contact

This website is supported by our funders. The International Gaucher Alliance maintains full editorial independence, and our funders have no influence over the content published on this website.