Gaucher disease (GD) is a rare genetic condition that affects the bones, liver, spleen, and other parts of the body. GD is caused when an individual inherits a change or variant in the GBA gene from both of their parents. This gene change results in the body making too little of a specific enzyme called β-glucosidase or glucocerebrosidase that is needed to break down certain fats called glucocerebroside (GL1). These fatty substances build up in the cells of the bone, spleen, liver, and other parts of the body.
Gaucher disease related health issues can start at any age but based on the timing when symptoms begin and the seriousness of the medical issues it is divided into 3 types: type 1, type 2 and type 3. GD type 1 symptoms can begin in childhood or adulthood and respond well to treatment when begun early. Usually, type 1 Gaucher disease is non-neuronopathic, meaning it does not affect the brain. GD types 2 and 3 are seen around the world, but are the most common types of Gaucher disease seen outside the United States, like in Taiwan, Japan, India and Egypt. GD type 2 is the most severe and acute life-threatening form of the disease with health issues usually beginning before birth. GD type 3 is an intermediate, chronic form of the disease which causes issues not only with the spleen, liver and bones but affects the brain. Type 3 GD usually begins in childhood and is slowly progressive.
Common Questions for Gaucher disease …
Diagnosis and Testing
What are the laboratories that offer commercial genetic testing for Gaucher disease?
Treatment
What are the symptom based treatments for Gaucher disease?
Clinical Research and Studies
Who accepts money to help patient with Gaucher?
Diagnosis and Testing
What are the laboratories that offer commercial genetic testing for Gaucher disease?
On the genetic testing registry, there are dozens of tests available for GBA gene in many commercial labs in the US. The list of laboratories for genetic testing can be found at: http://www.ncbi.nlm.nih.gov/gtr/tests/?term=Gaucher disease
How do I get biochemical testing for Gaucher?
The enzyme test to determine the level of glucocerebrosidase is the standard method for diagnosing Gaucher disease. Affected individuals with type 1 Gaucher disease typically have 20% of the normal enzyme level compared with unaffected individuals. Type 2 and type 3 children usually have less residual enzyme (~0-15%) activity compared with unaffected individuals.
References
- Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
How is carrier testing for Gaucher disease performed?
Enzyme testing is not reliable for carrier testing because there is an area of overlap in enzyme levels between non-carriers and carriers. Genetic testing is done to identify carriers for Gaucher disease. The test will look for mutations in the GBA gene. There are two common methods for carrier testing. One test is called the targeted mutation test, which looks for the 4 common GBA mutations seen the in Ashkenazi Jewish population. This test is often used for individuals of Ashkenazi Jewish background. The second test is called sequencing and looks for all the DNA bases in the GBA gene.
References
- Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
Treatment
What are the symptom-based treatments for Gaucher disease?
Symptom-based treatments for Gaucher disease include:
- Analgesics for bone pain
- Joint replacement surgery for relief from chronic pain and restoration of function
- Bisphosphanates (e.g. Boniva) and calcium for osteoporosis
- Prophylactic antibiotics
- Blood transfusions
References
- Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
What are the downsides of ERT with Cerezyme?
Patients on enzyme replacement therapy (ERT) are usually dependent on this treatment for life. Some individuals can have infusion-related reactions to ERT, but these are typically mild and do not occur that frequently. ERT also involves Intravenous (IV) administration, which the patient may have to receive from a treatment center and requires administration by a nurse. ERT is also very costly. However, home therapy is an available option in many countries. Talk to your doctor to determine if this is an option for you.
References
- National Gaucher Foundation Inc. [Internet] [updated 2016]. Available from: http://www.gaucherdisease.org/
Is there a pill to treat Gaucher disease?
Substrate reduction therapy (SRT) works by reducing the amount of fat (GL1 substrate) made by the body that will eventually be turned into waste products. The goal is to limit the fat buildup (GL1 substrates) to a level that can be effectively cleared by the naturally occurring enzyme (all living people with Gaucher disease have a little enzyme) with residual activity. As SRT is a small molecule, the benefit is an oral medication.
Miglustat is recommended as a treatment alternative for those with hypersensitivity to ERT or poor venous access (problems with multiple need sticks).
Ceredelga is a first-line therapy for the treatment of adult patients with Gaucher disease.
References
- Dwek RA, Butters TD, Platt FM, Zitzmann N. Targeting glycosylation as a therapeutic approach. Nat Rev Drug Discov. 2002;1:65-75.
Clinical Research and Studies
Who accepts money to help patients with Gaucher?
Gaucher Patient Advocacy groups around the world are always grateful for donations to help fund research, provide patient resources and improve the lives of patients living with Gaucher disease. In the United States, the National Gaucher Foundation and the Gaucher Community Alliance are valued resources for many patients living with Gaucher disease.
References
- National Gaucher Foundation Inc. [Internet] [updated 2016]. Available from: http://www.gaucherdisease.org/
What happens in type 3 Gaucher?
In type 3 Gaucher disease, symptoms usually develop in childhood. They have all the symptoms of type 1 Gaucher disease; however, they also have neurological symptoms like seizures, ataxia (moving funny), and abnormal eye movements. Children with type 3 disease often blink excessively and have difficulty moving their eyes from side to side without thrusting their head to keep up with an object. Affected individuals can live into the 3rd or 4th decades of their lives.
References
- Gaucher disease type 3. [Internet]. Online Mendelian Inheritance in Man [updated March 23, 2012].Available from: http://omim.org/entry/231000.
How is carrier testing for Gaucher disease performed?
Enzyme testing is not reliable for carrier testing because there is an area of overlap in enzyme levels between non-carriers and carriers. Genetic testing is done to identify carriers for Gaucher disease. The test will look for mutations in the GBA gene. There are two common methods for carrier testing. One test is called the targeted mutation test, which looks for the 4 common GBA mutations seen the in Ashkenazi Jewish population. This test is often used for individuals of Ashkenazi Jewish background. The second test is called sequencing and looks for all the DNA bases in the GBA gene.
References
- Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
Living with Your Condition
What health concerns are there for carriers of Gaucher disease?
Carriers for Gaucher disease are generally healthy. Family studies suggest that carriers for Gaucher disease are at increased risk for Parkinson disease.
References
- McNeill A, Duran R, Hughes DA, Mehta A, Schapira AH. A clinical and family history study of Parkinson’s disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatry. 2012;83:853-4.
- Halperin A, Elstein D, Zimran A. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis. 2006;36:426-8.
Is there a risk for Parkinson disease in individuals with Gaucher disease?
The precise risk for individuals with Gaucher disease of developing Parkinson disease is not known, but has been variously estimated as 20- to 30-fold the risk of an individual in the general population.
GBA mutations have been identified in 5%-10% of individuals with Parkinson disease. Parkinson disease associated with Gaucher disease is indistinguishable from other Parkinson disease, although Parkinson disease associated with Gaucher disease has a slightly earlier onset (~5 years earlier) and more frequent cognitive dysfunction.
References
- Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK. The risk of Parkinson’s disease in type 1 Gaucher disease. J Inherit Metab Dis. 2010;33:167-73.
- Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med. 2009;361:1651-61.
- Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson’s disease. Brain. 2009;132:1783-94.
What resources or books are available for teens living with Gaucher disease?
The teenage years are a time when teens often begin separating their thoughts, goals, and self-image from those of their parents. They begin exploring who they are and who they want to become as they enter adulthood. For people living with a chronic disease, like a lysosomal storage disease, the teen years should also include a gradual transfer of medical care responsibility from parents to the teens themselves. As you might guess, it’s a lot easier to learn to do this slowly and with a plan, rather than jumping headfirst into a fast and confusing crash course of medical needs on your 18th birthday. This workbook, Transitions: Managing Your Own Healthcare, is packed full of exercises designed to help teens figure out how much they already are managing their own healthcare and how to uncover what they still need to learn and master to successfully manage their own healthcare.
