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?
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?
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.
Massachusetts General Hospital's ambassadors and volunteer escorts can provide special assistance as needed to patients and visitors arriving at or being discharged from the hospital.
Call the Mass General Physician Referral Service at 800-388-4644 for help finding a specialist.
Discover the largest hospital-based research program in the U.S. and how clinicians and scientists chart new terrain in biomedical research to treat and prevent human disease and bring the latest advances to patient care