- Gaucher disease facts
- What is Gaucher disease?
- What are the symptoms of Gaucher disease?
- How is Gaucher disease inherited?
- How common is Gaucher disease?
- What are the types of Gaucher disease?
- What causes Gaucher disease?
- Which specialties of doctors treat Gaucher disease?
- Is there a test to diagnose Gaucher disease?
- What is the treatment for Gaucher disease?
- What is the prognosis, or life-expectancy, for someone with Gaucher disease?
- Should I talk to my family about Gaucher disease?
- What help is available for patients and their families living with Gaucher disease?
- What other names are used to refer to Gaucher disease?
What causes Gaucher disease?
All of the types of Gaucher disease are caused by a deficiency of the enzyme glucocerebrosidase, leading to an abnormal buildup of fatty substances, glycolipids, in the body cells. Mutations in the gene known as GBA1 are the cause of the deficient enzyme, and over 300 different GBA1 mutations have been identified in people with Gaucher disease. The mutations are inherited (passed from parent to offspring) in an autosomal recessive manner (see above). The four most common mutations of GBA1 gene are N370S, L444P, 84gg and IVS2[+1]. DNA analysis for these 4 mutations can detect 90%-95% of the mutations associated with Gaucher Disease in the Ashkenazi Jewish population, and 50%-75% of the associated mutations in the general population.
Which specialties of doctors treat Gaucher disease?
Patients with Gaucher disease may be treated by a number of different medical specialists, depending on the type of the disease and the specific symptoms and signs of the condition they experience. These may include pediatricians, neonatologists, internists, geneticists, neurologists, orthopedists, critical care specialists, cardiologists, and hematologists. Most patients who are treated with enzyme replacement therapy will have their treatment plan managed by a geneticist and/or hematologist.
Is there a test to diagnose Gaucher disease?
A blood test is used to make the diagnosis of Gaucher disease. The enzyme assay test measures activity of the glucocerebrosidase enzyme in certain white blood cells. Having less than 15% of normal enzyme activity is diagnostic for Gaucher disease. Genetic analysis is also done to establish the specific type of mutations in the GBA1 gene.
What is the treatment for Gaucher disease?
There is no cure for Gaucher disease, but medical treatments are available. Enzyme replacement therapy (ERT) is the primary form of treatment for people with type 1 and Gaucher disease and for the non-neurologic symptoms of type 3 Gaucher disease. The drug is given intravenously, generally at 2-week intervals. There are three ERT drugs available, imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso).
Other medications available to treat Gaucher disease include drugs that block the production of the sphingolipids that accumulate in cells and cause symptoms. These drugs are known as glucosylceramide synthase inhibitors and are taken by mouth. Two drugs in this class are miglustat (Zavesca) and eliglustat (Cerdelga).
Formerly, the condition was often treated by surgical removal of the spleen (splenectomy). However, this is typically not necessary given the availability of ERT.