Gaucher disease

Living with

Is there a Gaucher disease cure?

Currently, there is no cure for Gaucher disease, but there are treatments and medications available to manage symptoms. Gene therapy trials are underway with the promise for the future.

References
  • Gaucher disease. [Internet]. Genetics Home Reference. [updated September 2014].Available http://ghr.nlm.nih.gov/condition/gaucher-disease
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Can pregnancy affect the course of Gaucher disease?

Is there a risk for Parkinson disease in individuals with Gaucher disease?

What health concerns are there for carriers of Gaucher disease?

What resources or books are available for teens living with Gaucher disease?

Can pregnancy affect the course of Gaucher disease?

Pregnancy may affect the course of Gaucher disease both by exacerbating preexisting symptoms and by triggering new features such as bone pain. Women with severe thrombocytopenia and/or clotting abnormalities may have an increased risk of bleeding around the time of delivery. Talk to your physician prior to getting pregnant and how to best manage your pregnancy if you are pregnant.

References
  • Elstein Y, Eisenberg V, Granovsky-Grisaru S, Rabinowitz R, Samueloff A, Zimran A, Elstein D. Pregnancies in Gaucher disease: a 5-year study. Am J Obstet Gynecol. 2004b;190:435-41.
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 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.
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.

Transitions: Managing Your Own Healthcare

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