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Signs and symptoms

Type 1 Gaucher disease symptoms may be very different between patients and develop over time, so it may resemble other conditions and take time to diagnose.3,5,7,8 The main signs and symptoms are:

  • Enlarged spleen and/or enlarged liver4,9
  • Bruising and nosebleeds4,8,9
  • Fatigue4
  • Bone ache and fractures.3

If you experience these symptoms, please discuss them with your doctor as they can help diagnose and support you.

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diagnosis, testing, and monitoring

Diagnosis

Diagnosis of Gaucher disease is confirmed with clinical evaluation, a blood test to measure beta-glucosidase enzyme activity, and genetic testing.7,8 As the disease is progressive, an earlier diagnosis can mean some symptoms are managed sooner.6

If you think you may have Gaucher disease, please speak to your doctor and they will be able to advise you.

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Genetic testing

Gaucher disease is genetic and has an autosomal recessive inheritance pattern.7 This means that people can be carriers of the genetic mutation without having the condition. Genetic testing can be used to identify carriers of Gaucher disease and help predict whether your children will inherit the mutation and be affected by it.

The number of people with type 1 Gaucher disease may be higher in people of Ashkenazi Jewish ancestry, with 1 in 600 affected.7,10 Carrier screening for mutations is recommended for Ashkenazi Jewish people and other individuals who are at high risk for the disease.3,6,9

If you are concerned about Gaucher disease, please speak to your doctor.

Monitoring

If you have Gaucher disease, your doctor will ask you to attend regular check-ups to run blood tests, measure your spleen and liver, and perform skeletal scans to monitor the progression of the disease.11 This usually happens every 6–24 months and your doctor will guide you.11

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management

Management and treatment options

The treatments available for type 1 Gaucher disease are3:

  • Enzyme replacement therapy (ERT) infusion, or
  • Oral treatment with a substrate reduction therapy (SRT).

If you have type 1 Gaucher disease, please speak with your doctor to discuss if various management or treatment options may be right for you. You can also visit the resources below to learn more.

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External Sources

The National Gaucher Foundation (NGF) helps patients with Gaucher disease and their families through financial support, educational resources, and research.

www.gaucherdisease.org

The National Organization for Rare Diseases (NORD) aims to support patients with rare diseases through educational, advocacy, and research programs.

rarediseases.org

The Gaucher Community Alliance (GCA) provides emotional support, information, and patient and family resources for anyone affected by Gaucher disease.

www.gauchercommunity.org

Downloadable Materials

Community awareness resource - Gaucher brochure

Download
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