Massachusetts General Hospital

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.