Signs and symptoms of Gaucher's disease can vary widely. Siblings, even identical twins, with the disease may have different levels of severity. Some people who have Gaucher's disease have no symptoms at all.
Most people who have Gaucher's disease experience 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's 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's disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.
More rarely, Gaucher's disease can affect the brain, which may cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher's disease begins in infancy and typically results in death by the age of 2.
When to see a doctor
If you or your child has any of the signs and symptoms associated with Gaucher's disease, make an appointment with your doctor.
Gaucher's disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher's genetic mutation for their child to inherit the condition.
People of Eastern or Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher's disease.
Gaucher's disease may increase the risk of:
- Growth delays in children
- Gynecological and obstetric problems
- Parkinson's disease
- Cancers such as myeloma, leukemia and lymphoma