Gaucher disease is a common lysomal storage disorder that results from not having enough glucocerebrosidase (GCase), an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow.
- Swollen belly due to spleen and liver enlargement
- Bone pain and easily fractured bones
- Anemia (low blood counts) and fatigue
- Bleeding and bruising problems
Individuals who have Gaucher disease have very low levels of this enzyme activity. A doctor may diagnose Type 1 by taking a blood sample to run an assay that will measure the enzyme activity levels.
A second type of laboratory test involves DNA analysis of the GBA gene for the four most common GBA mutations. Both enzyme and DNA testing can be done prenatally. A bone marrow or liver biopsy is not necessary to establish the diagnosis.
Types of Gaucher Disease
Scientists divide Gaucher disease into 3 different types based on presence or absence of early onset brain involvement, including:
- Gaucher disease type 1: Gaucher disease type 1 is the most common form of the disease in western countries, making up roughly 95 percent of patients there. Symptoms include spleen and liver enlargement, bone problems and fatigue. Brain development is normal.
- Gaucher disease type 2: This type of Gaucher disease is rare and involves severe neurological (brain stem) abnormalities. It is usually fatal within the first 2 years, and it is currently untreatable because of the severe, irreversible brain damage.
- Gaucher disease type 3: This type of Gaucher disease is rare in the United States and Europe; however, it is the most common form of the disease worldwide. Gaucher disease type 3 has a severity between types 1 and 2, causing the same symptoms as type 1 plus some neurological involvement. While patients typically have a shortened lifespan, some can live into their 50s with treatment.
Available treatments include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). It is essential to work with a Gaucher specialist who can monitor your health and adjust your medication as necessary.
- Enzyme replacement therapy (ERT)
Enzyme replacement therapy (ERT) balances low levels of GCase in patients with Gaucher disease so their bodies can break down glucocerebroside. (This compensates for the missing enzyme, which is why the therapy is called enzyme replacement.) ERT involves receiving intravenous (IV) infusions about every 2 weeks, either at an infusion center or at home.
- Substrate reduction therapy (SRT)
Substrate reduction therapy (SRT) is a newer treatment that works differently than ERT. SRT is an oral medication that decreases the amount of glucocerebroside that the body makes, reducing excess buildup.
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- 22 Aug 2018
- FOSRX/FAST Services