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Gaucher Disease (Type 1)

Gaucher disease (type 1) is a condition characterized by low blood counts, enlargement of the spleen and liver as well as bone problems including pain. Age of onset and severity of symptoms vary enormously. Treatment is available to manage the symptoms of the condition.

If you have just received a diagnosis there is help and support available - please see ‘Further information and support’ below for links to valuable resources. It is also important to note that not every person with this condition experiences all the symptoms described and it is worth talking to your doctor or other relevant healthcare specialists to discuss you or your family member’s individual case.

Inheritance

Gaucher disease is an autosomal recessiveRecessive disorders require both parents to carry a specific disorder-related mutation and pass it on to their child for the disorder to be inherited condition.

Prevalence

Of the three types of Gaucher disease (type 1, 2 and 3), Type 1 is the most common and the only one which is more prevalent among people of Ashkenazi Jewish ancestry relative to the general population.

The carrier frequency of Gaucher disease (type 1) among Ashkenazi Jews is approximately 1 in 12.

Symptoms

Some individuals with Gaucher disease (type 1) show symptoms in childhood whereas many others remain relatively symptom-free throughout their lives.

Although the range and severity of symptoms vary greatly, common symptoms can include:

  • Enlargement of the spleen and/or liver
  • Anaemia (low haemoglobin and red cells in the blood)
  • Easy bruising and bleeding (due to low platelets and other blood clotting abnormalities)
  • Pain and degeneration of joints and bones
  • Bone deterioration leading to increased susceptibility to fractures and other bone problems
  • General fatigue


Please click on the titles to open and close the following information sections.

The disorder is caused by a mutationA mutation refers to a structural change in a gene in the GBA gene that leads to a deficiency in the enzyme responsible for breaking down a fatty substance called glucocerebroside. This enzyme deficiency leads to a fatty build up in the lysosomes of specialised cells called ‘macrophages’, restricting their normal function of degrading worn-out cells for recycling. Enlarged macrophages containing undigested glucocerebroside are called Gaucher cells and are the hallmark of this ‘storage’ disorder.

Symptoms can be effectively treated using enzyme replacement therapy (ERT). Fortnightly or monthly infusions of the replacement enzyme have been shown to reduce the signs and symptoms of the disease, and stabilise or reverse the disease progression. An individual on ERT must be monitored and the enzyme dose adjusted according to their response.

An alternative treatment is called substrate reduction therapy (SRT) which involves taking oral medication to reduce the amount of the stored fatty substance (glucocerebroside)  being produced by the body. SRT has been shown to reduce the size of the spleen and increase bone density but can cause side effects

Care of Gaucher disease in England is currently organised through a number of specialist centres designated by the National Commissioning Board. Currently, therapy is available for any Gaucher patient in England whose specialist centre physician prescribes treatment according to the nationally agreed guidelines. Scottish, Welsh and Northern Irish Gaucher patients can be seen in these English centres for diagnosis and management but funding arrangements differ for these regions. In addition there are also specialist centres in Cardiff and Belfast.

How the disorder develops varies greatly from individual to individual, with some people experiencing no clinical signs and others developing severe symptoms. In general, the later in life that symptoms first appear, the less likely it is that the disorder will be severe. With treatment, lifespan is expected to be unaffected.

As the condition can affect multiple organ systems, clinical diagnosis by a GP is not always straightforward.

If an individual develops signs and symptoms associated with the disorder, it is helpful to be referred to a specialist Lysosomal Storage Disorder centre where a multi-disciplinary team of healthcare professionals can explore further to confirm whether or not a person has the disorder.

The diagnosis is made by finding a reduced activity of the glucocerebrosidase enzyme by a simple blood test. Since the gene for Gaucher disease has been identified, genetic testing can now be used to confirm the diagnosis and provide important information on the disease causing mutation for genetic counselling.

Where there is a clear family history of the disorder, family members can be referred for carrier testing which also involves a simple blood test. Prenatal testing for the condition is also possible.

For more details about testing, please refer to the testing section.

Gauchers Association UK

This Association provides information about all types of Gaucher Disease (GD); keeps families and medical advisers up to date with research developments; offers a support network for affected families; encourages the availability of treatment and provides details on how treatment can be accessed; and actively promotes medical research.

Tel/Fax: 01453 549 231

The site also provides details of the specialist Lysosomal Storage Disorder centres in the UK in their links section.

Gaucher Disease Facebook Group

A closed support group on Facebook for people with Gaucher disease.

European Gaucher Alliance (Europe)

This Alliance, which now has a membership of 27 countries, facilitates the collaboration of Gaucher patient groups across Europe. It aims to: collect and disseminate information on new developments about GD; provide guidance and encourage GD patient groups; represent GD patient interests internationally; encourage and promote research; provide a forum to address ethical issues relating to GD, and ensure that suitable treatment is available to all GD patients.

National Gaucher Foundation (USA)

This American organisation offers a wide range of programs and resources for the benefit of the Gaucher community. It funds research, offers financial assistance, promotes education and awareness, supports legislative issues and provides outreach programs vital to the Gaucher community in the USA.

To find out more about general resources relevant to Jewish genetic disorders, please visit our resources and support section.

 

Written by Jnetics.
Approved by Dr Derralynn Hughes, Senior Lecturer in Haematology at the Royal Free
Review date: 19.1.2015