Conditions & Treatments

Gaucher's Disease

Gaucher disease is an inherited lysosomal storage disorder.

Gaucher Disease

What is Gaucher Disease?

Gaucher disease is an inherited lysosomal storage disorder secondary to a defect in acid beta-glucosidase and subsequent glycosphingolipid deposition in hematopoietic organs including the bone marrow, spleen and liver.

What are the different types of Gaucher disease?

  • Type I is non-neuronopathic
  • Type 2 is severe infantile form with encephalopathy in addition to other Gaucher clinical features
  • Type 3 is associated with later onset neurologic features in addition to the somatic Gaucher signs and symptoms

What are the risk factors for Gaucher disease?

Autosomal recessive inheritance. Higher carrier rate and incidence in the Ashkenazi Jewish population.

What causes Gaucher disease?

Gaucher disease is a genetic defect caused by a defect in acid beta-glucosidase and subsequent glycoshpingolipid deposition in hematopoietic organs including the bone marrow, spleen and liver and in the nervous system (types 2 and 3).

What are the symptoms for Gaucher disease?

This multisystem variable disease can present with a wide range of symptoms and may not be recognized and/or misdiagnosed. Frequent misdiagnoses include leukemia, lymphoma, rheumatoid arthritis and osteoporosis.

Clinical features are extremely variable in each patient, and even within a family various members can exhibit a very different clinical problems and course. Some individuals are mildly affected and have little or no health problems.

For others, Gaucher disease can be a progressive condition.

How is Gaucher disease diagnosed?

  • Enzyme analysis (beta-glucosidase)
  • Molecular genetic testing

Treatment for Gaucher disease

Close medical follow-up with periodic assessment is appropriate for those with Gaucher disease throughout their lifetime. Enzyme replacement, small-molecule (chaperone) and substrate inhibition therapies are available or under study.

Treatment Programs

Massachusetts General Hospital understands that a variety of factors influence patients' health care decisions. That's just one reason why we're dedicated to ensuring patients understand their diagnosis and treatment options. Because a single option might not serve all patients, we offer a wide range of coordinated treatments and related services across the hospital. Patients should consult with their primary care doctor or other qualified health care provider for medical advice and diagnosis information.

Select a treatment program for more information:

Department of Neurology

  • Neurogenetics Program
    The Neurogenetics Program provides clinical care, conducts research for certain neurogenetic disorders and offers diagnostic testing for an array of neurodegenerative diseases.

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Referring Physicians

Call the Mass General Physician Referral Service at 800-388-4644 for help finding a specialist.

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