Gaucher disease is a genetic disorder passed along to children born to two parents with the recessive trait. The disease affects as many as 1 in 50,000 people with the highest risk in the Ashkenazi Jewish population. The three types of Gaucher disease are type 1, type 2 and type 3. Type 1 is the most common. Patients with Gaucher disease do not produce glucocerebrosidase. Without this enzyme, harmful substances build up in some organs.
Carriers of Gaucher disease do not present with symptoms. If the disease is present in family history, married couples may wish to have genetic testing before having children. If only one parent tests positive for the Gaucher disease recessive gene, there is no risk of passing the disease on to children. If both parents test positive for the recessive gene, there is a high risk of passing the disease onto children.
Who is at Risk?
Gaucher disease can affect anyone, but the Ashkenazi Jewish population is at highest risk for type 1 Gaucher disease. Lifespan for the three types of Gaucher disease varies with type 2 leading to an extremely early death.
Symptoms of Gaucher disease typically appear early in life. Patients with type 2 Gaucher disease are often diagnosed during infancy characterized by extreme neurologic development problems. Other symptoms of Gaucher disease include:
- Bone fractures
- Bone pain
- Bruising easily
- Lack of energy
- Diseases of the lung
- Heart problems
Complications from Gaucher disease differ between types, but patients can expect to suffer anemia, bone problems and seizures. Early death is associated with type 2 Gaucher disease.
Diagnosis of Gaucher disease typically begins with a physical exam. Doctors look for enlarged organs, which are typically palpable during examination. Patients may present with irregular eye movement, lung disease and loss of hearing. After the physical exam, if the physician feels the patient is at risk for Gaucher disease, a battery of tests are ordered, including:
- CT scan
- Spleen biopsy
- Genetic testing
The only treatment for Gaucher disease is enzyme therapy. There is no cure for the disease, but some patients find relief after a bone marrow transplant. Patients may be treated for symptoms. There are no viable treatments for type 2 Gaucher disease.
Patients with type 1 and type 3 Gaucher disease tend to have a normal life span with medical care. Type 2, or infantile Gaucher disease, typically reduces lifespan to less than five years.