About Gaucher Disease
Gaucher Disease (GD) is a rare, progressive and potentially life-threatening genetic disease. It affects both males and females, and the age of onset ranges from childhood to adulthood. It is a multi-systemic condition caused by the accumulation of a type of lipid called glucocerebroside in tissues and organs.1-3
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Early recognition is key to minimize the accumulation of glucocerebroside lipid which in turn may help reduce the risk of damage to organs. Delays in diagnosis can lead to serious, irreversible health consequences, missed reproductive counselling opportunities, and delays in diagnosis of at-risk family members.3-6
Signs and symptoms
The symptoms of Gaucher Disease vary from person to person.7 In some people, Gaucher Disease can be mild or may have no symptoms at all.7,8
Most common symptoms experienced by some people with Gaucher Disease*
Iron-poor blood (caused by Anemia, a common disorder that occurs when a deficiency in your red blood cells impedes delivery of oxygen throughout your body).5
Swollen or tender stomach or abdomen due to an enlarged spleen (known as splenomegaly)8-10
Persistent unexplained bleeding or frequent bruising (caused by a low platelet count, which is known as thrombocytopenia)8-10
Slow growth (in children)9,10
Liver can also be enlarged (known as hepatomegaly)8
Bone/joint pain or bone fractures8-10
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*These symptoms are not specific to Gaucher Disease and might not constitute a diagnosis of Gaucher Disease. Please consult with your Doctor.
Diagnosing Gaucher Disease
A healthcare professional will have to review one’s patient history and confirmif they meet certain criteria consistent with Gaucher Disease.
Based on their medical history they may pursue a comprehensive assessment ata genetic/metabolic/treatment centre and/or order a free screening test.
Review your patient history with your Doctor
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TAKE THE GAUCHER DISEASE ASSESSMENT
Get referred to a genetic / metabolic / treatment centre
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FIND A TREATMENT CENTRE
Have your Doctor order the free screening test
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How is Gaucher Disease treated?
There is no cure for Gaucher Disease, but certain treatments are available to help with the management of the disease. These are not appropriate for everyone who has Gaucher Disease. Your doctor can discuss suitable management options with you.
References
1. Stirnemann J, Belmatoug N, Fabrice Camou et al. Int J Mol Sci 2017:18(2);441-471.
2. National Organization for Rare Disorders. Gaucher Disease. Available from: www.rarediseases.org/rare-diseases/gaucher-disease. Accessed January 3, 2019.
3. Mistry PK, Sadan S, Yang R et al. Am J Hematol 2007;82(8):697-701.
4. National Gaucher Foundation. Gaucher Disease Prognosis and Life Expectancy. Available from www.gaucherdisease.org/about-gaucher-disease/life-expectancy. Accessed January 3, 2019.
5. Mistry PK, Cappellini M, Lukina E et al. Am J Hematol 2011;86(1):110-115.
6. National Gaucher Foundation. Prenatal Screening and Genetic Counseling for Gaucher Disease. Available from: www.gaucherdisease.org/gaucher-diagnosis-treatment/testing/screening. Accessed January 3, 2019.
7. Sidransky E. Gaucher Disease: complexity in a “simple” disorder. Mol Genet Metab 2004;83(1–2):6–15.
8. Sidransky E, et al. Gaucher Disease. Updated August 2016. Available at: http://emedicine.medscape.com/article/944157-clinical; Accessed: January 3 2019.
9. Thomas AS, et al. Diagnosing Gaucher Disease: an on-going need for increased awareness amongst haematologists. Blood Cells Mol Dis 2013;50(3):212–217.
10. Mistry P, et al. Consequences of diagnostic delays in type 1 Gaucher Disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol 2007;82(8):697–701.