What are the main signs and symptoms of Gaucher disease?
Symptoms vary among people who have type 1 Gaucher disease. Some do not have any symptoms, but usually there is liver and spleen enlargement, and reduced haemoglobin and platelet count.6 In addition to these signs and symptoms, children often have delayed growth and development.6
People with type 2 and type 3 Gaucher disease may have similar signs and symptoms to people with type 1 Gaucher disease, though patients with Type 2 Gaucher disease do not survive long enough to show bone disease.7 A major difference between the types is in the central nervous system (CNS) involvement6,8
Type 1 Gaucher disease does not directly affect the CNS, but damage to bones in the spine can lead to CNS problems (the neurologic complications due to bone diseases such as spinal cord or nerve root compression, emboli following long bone fracture).6,8
Type 2 Gaucher disease has severe effects on the CNS. The disease progresses quickly, and it is usually fatal in infancy (age 2–4 years).6,8
Type 3 Gaucher disease also affects the CNS and progresses slowly.6,8