There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common.
Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.
Most people who have Gaucher disease have varying degrees of the following problems:
- Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
- Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
- Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.
More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.
When to see a doctor
If you or your child has the signs and symptoms associated with Gaucher disease, make an appointment with your doctor.
Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.
People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.
Gaucher disease can result in:
- Delays in growth and puberty in children
- Gynecological and obstetric problems
- Parkinson's disease
- Cancers such as myeloma, leukemia and lymphoma
May 24, 2017
- Hughes D. Gaucher disease: Pathogenesis, clinical manifestations and diagnosis. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- Gaucher disease (Type 1). Genetic Disease Foundation. http://www.geneticdiseasefoundation.org/genetic-diseases/gaucher-disease-type-i/. Accessed Jan. 6, 2017.
- Hughes D. Gaucher disease: Initial assessment, monitoring and clinical course. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- Gaucher disease. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/gaucher-disease. Accessed Jan. 6, 2017.
- National Library of Medicine. Gaucher disease. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed Jan. 6, 2017.
- Hughes D. Gaucher disease: Treatment. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- FDA approves new drug to treat a form of Gaucher disease. U.S. Food and Drug Administration. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm410585. Accessed Jan. 6, 2017.