Gaucher disease is a rare disease. It causes the abnormal storage of fatty substances. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain. There are three types of Gaucher disease:
- Type I—most common, found widely in people of Ashkenazi Jewish descent
- Type II—very rare, rapidly progressive form
- Type III—very rare form, most cases found in Japan and Scandinavia
Gaucher disease is a genetic disease. A faulty gene limits the amount of an enzyme called glucocerebrosidase. The enzyme normally breaks down a fat called glucocerebroside. There is not enough of the enzyme to break down all of this specific fat. As a result it starts to builds up in the spleen, liver, lungs, bones, and brain.
A family history of Gaucher is the only known factor that increases your risk of Gaucher.
Symptoms vary across the three types of Gaucher disease. In general, the later the onset of symptoms, the less likely that symptoms will be severe.
Type I symptoms may include:
- Fatigue due to anemia
- Painful deformity of the thigh bones known as “Erlenmeyer flask deformity”
- Compression of the lungs
- Slow or stunted growth in children
- Bone and joint problems
- Intestinal problems like abdominal swelling
- Trouble breathing
- Eye problems
- Developmental delays
In type II, rigidity and seizures may appear withinthe first few months of life. Dementia and mental retardation may appear later. This type is usually fatal by the age of three.
In type III, the primary symptom is a slowly progressive neurologic disease. This can include seizures and mental retardation. Other symptoms are similar to type I and may appear in early childhood. People with type III Gaucher who survive through adolescence may survive until their 30s or 40s.
Your doctor will ask about symptoms and medical history. A physical exam will be done. Diagnosis of Gaucher disease is confirmed with DNA tests or tests that measure glucocerebrosidase. Tests may be done with blood, tissue, or urine.
There is no treatment for the severe neurologic symptoms that may occur with type II and type III Gaucher.
Treatment options for type I Gaucher include:
Certain medications can be used to replace the missing enzyme. This enzyme replacement therapy will be given through regular infusions. This therapy can help reduce abnormalities in the bone, decrease liver and spleen size, and reverse some abnormal blood counts.
Substrate reduction therapy may be effective for people that can not tolerate the enzyme replacement therapy.
Bone marrow transplant
A transplant is used only in patients with severe neurological symptoms.
An enlarged spleen may need to be removed. It can lead to other health problems if it remains in and enlarged.
There is no known way to prevent Gaucher disease. If you have Gaucher disease or have a family history of the disorder, you can talk to a genetic counselor. They can help determine the risk of Gaucher disease in your offspring.