Gaucher disease

Common health problems in patients with Type 1 Gaucher disease are:

1. Bone Pain/Bone crisis

2. Hepatosplenomegaly (large liver and spleen)

3. Anemia (causing easy fatigue)

4. Thrombocytopenia (low platelet counts causing easy bruising and bleeding)

5. Osteopenia/Osteoporosis

The signs and symptoms seen in Type 2 and 3 Gaucher disease, but not Type 1, are:

• Seizures and cognitive impairment
• Muscle stiffness
• Strabismus (crossed eyes)
• Ocular motor apraxia
• Loss of coordination and balance
• Gait abnormalitites

Type 1 Gaucher disease does not affect the CNS and therefore is termed non-neuronopathic Gaucher disease. Individuals living with type 1 Gaucher disease can live a normal lifespan. Type 2 Gaucher disease is a progressive disease course resulting in early mortality by 2 years of age. Determining if a child has type 2 or type 3 Gaucher disease is difficult and if enzyme replacement therapy is available, and the infant responds, it is then considered to be type 3 disease. However, it is important to remember that ERT does not cross the blood-brain barrier and may not correct many of the aspects of type 3 disease. It may be helpful to find a geneticist specializing in neuronopathic Gaucher disease.