Gaucher disease is a rare condition passed down through families. People with Gaucher disease are lacking or have a problem with an important enzyme that the body needs.
This enzyme is important in the breakdown of a fatty substance in the body. A problem with the enzyme can lead to the buildup of fatty materials in your cells, which can damage your organs and tissues.
Your doctor may also call Gaucher disease a lysosomal or lipid storage disease.
What Causes Gaucher Disease?
Gaucher disease is caused by a defect in a gene called GBA. The GBA gene tells your body to make a protein, or enzyme, called glucocerebrosidase.
You need this protein to break down a certain fatty substance into sugar and a simple fat, which your body uses for fuel. Without this protein, a fatty substance and related materials begin to collect inside the cells of your:
- Bone marrow
This process interferes with the way your bone marrow works. It can be dangerous, even life-threatening.
The buildup of toxic fatty materials can also cause bone mineral loss. This leads to weak bones that can break easily.
Will I Get Gaucher Disease?
Gaucher disease is inherited in a recessive pattern. That means you need two copies of the defective gene to develop the disease. Your mother and father must both pass onto you an abnormal copy of the GBA gene.
You may not know if your parents have the abnormal gene. A person who has one copy of the defective gene is called a carrier. A carrier typically does not have signs or symptoms of the disease.
If both your parents carry the defective GBA gene, you have a one in four chance of inheriting Gaucher disease.
Gaucher disease is most often seen in people of Ashkenazi (Eastern and Central European) Jewish descent. About one in 500 to 1,000 people in this group develop this disease.
Are Their Different Types of Gaucher Disease?
There are several types of Gaucher disease:
Type 1. This is the most common form. It is called non-neuropathic Gaucher disease because it usually does not affect the brain or spinal cord. It can affect children or adults.
Type 2. This is a life-threatening form seen in babies, usually by age 3 months. It is called acute infantile neuropathic Gaucher disease. It affects the brain and spinal cord.
Type 3. This type also affects the brain and spinal cord. But it tends to worsen more slowly than type 2. It is called chronic neuropathic Gaucher disease.
Perinatal lethal Gaucher disease. This is the most severe type. It is seen in infants and fetuses. A baby born with this form usually only lives a few days.
Gaucher disease -- cardiovascular type. This form primarily affects the heart. It causes hardening (calcification) of the heart valves.