what is
Gaucher disease?

Gaucher — GO SHEY — disease is a rare genetic disorder and is one of the lysosomal storage diseases. Lysosomes are compartments in your cells containing enzymes that break down carbohydrates and lipids.^1,2 People with Gaucher disease have lower levels of an enzyme called glucocerebrosidase, leading to an accumulation of fatty substances within cells.^3-5 These cells become ‘Gaucher cells’ and can accumulate in organs such as the spleen, liver, and bone marrow.

Gaucher disease is progressive; however, early diagnosis and treatment can help you manage your symptoms and lead a full life.³

Type 1 Gaucher disease

There are three types of Gaucher disease.⁶ Type 1 Gaucher is the most common form, affecting both sexes equally and an estimated 6,000 individuals with the disease in the United States.⁷

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 liver^4,9
Bruising and nosebleeds^4,8,9
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.

$Couple meeting their doctor to discuss symptoms, Gaucher disease symptoms, Gaucher disease spleen, enlarged abdomen, enlarged liver and spleen, enlarged spleen, frequent bruising and bleeding, anemia and fatigue, enlarged liver, liver enlargement, bone pain and fractures$

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.

Doctor providing support for her patient, Gaucher disease diagnosis, Gaucher disease diagnosis and treatment, Gaucher disease genetic testing, Gaucher disease blood tests

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

Happy mother and daughter with doctor, Gaucher disease gene, Gaucher disease genetic testing, Gaucher disease inheritance, Gaucher disease genetics, Gaucher genetics

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.

Father giving son a piggy back next to a smiling mother, Gaucher disease treatment, enzyme replacement therapy, Gaucher management, Gaucher disease management, Gaucher treatment, Treating Gaucher, Managing Gaucher

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

Student outside with his laptop reading information resources, Gaucher disease info, Gaucher disease information, Gaucher disease resources, Gaucher resources

events

No events to display at this time.

Stay updated

First Name*

Last Name*

Address*

City*

State*

ZIP*

Email*

Phone*

Age

Number of people in household with Gaucher disease*

Contact Consent (check all that apply)

I am a patient or family member residing in the US*

I am a US healthcare professional

By checking this box and clicking ‘Submit’ you certify that you are at least 18 years old, a US resident, and you are opting to receive information about Gaucher disease and other information from Takeda. You will be able to opt out of these communications using the unsubscribe feature. By checking this box and clicking ‘Submit’ you agree to Takeda's Privacy Policy Statement. This consent will be in effect until such a time as you opt out.

what is Gaucher disease?