Gaucher disease

Also known as: Cerebroside Lipidosis syndrome; Gaucher’s disease


Gaucher disease is an inherited metabolic condition. It is caused by a deficiency of an enzyme called glucocerebrosidase, which normally breaks down a fatty substance called glucocerebroside.


Last updated June 2016 by C.J. Hendriksz, Consultant, Transitional Metabolic Medicine, Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Greater Manchester, UK.

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What are the symptoms?

There are three types of Gaucher disease.

Type 1– usually starts to cause problems in childhood and is characterised by an enlarged liver and spleen and low blood cell levels. Anaemia, tiredness, easy bruising and a tendency to bleed are common or finding an enlarged spleen incidentally (as a result of another investigation). The bone itself may become thin and more likely to break. Breathing can also be affected in older patients. There can be growths of tissue in the conjunctiva of the eye and increased pigmentation of the skin. There is no effect on the nervous system in type I disease.

Type 2– children usually appear normal at birth but symptoms develop within a few months and rapidly progress, with deterioration in the organs, enlargement of the liver and spleen and damage to the nervous system causing abnormal eye movements, unsteadiness, swallowing problems and seizures. Growth usually halts and the child may regress in learned skills. Sadly, most children die by the age of two years.

Type 3– in this type, there is also damage to the nervous system but it is later in onset and progresses more slowly.

What are the causes?

Lack of glucocerebrosidase is due to a defect in the gene for acid beta-glucosidase or GBA. When glucocerebroside can’t be broken down properly, it accumulates within another type of cell called a macrophage (a cell that removes bacteria and other foreign bodies). Macrophages that accumulate glucocerebroside are called Gaucher cells, they are unable to function normally and gather in large amounts in the organs causing disruption to many of the body’s processes.

How is it diagnosed?

Diagnosis is based on observation of symptoms, and can be confirmed by a blood test.

How is it treated?

Treatment for Gaucher disease helps to alleviate the symptoms but there is no cure. Previously, splenectomy (removal of the spleen) helped to control anaemia, and joint replacements were used to restore damaged joints. Nowadays, more effective treatments have been found that tend to limit these complications. There are now three licensed products for use in Gaucher disease with a fourth one that is only available in the USA and some other parts of the world due to licensing restrictions. A new substrate deprivation therapy (SRT) may also become available soon for specific groups of patients depending on further approvals.

In type I and 3 Gaucher disease, enzyme replacement therapy (ERT) or SRT is used to alleviate symptoms that result from damage to most of the organs, with improvements in organ enlargement, anaemia and bone damage but little effect on neurological disease. Other treatments include bone marrow transplantation. Gene therapy, chaperones and other new molecules may be an option in the future.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal recessive inheritance. The most common form (type 1) affects under 1 in 60,000 of the general population but about 1 in 1,000 of Ashkenazi Jews. Not all of these individuals will show symptoms.

Prenatal diagnosis
Chorionic villus sampling at 10 to 12 weeks allows the condition to be diagnosed in the early stages of pregnancy if the genetic defect in the family is known. Families affected by the condition should receive genetic counselling.

Is there support?

Gauchers Association

Tel: 01453 549 231

The Association is a Registered Charity in England and Wales No. 1095657.  It provides information and support to those affected by Gaucher disease, and promotes awareness and research.

Group details last updatd June 2016.

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