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Gaucher disease - Treatment

Alternative Names

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Treatment:

Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.

Support Groups:

For more information contact:

  • Childrens Gauchers Disease Research Fund: www.childrensgaucher.org
  • National Gaucher Foundation: www.gaucherdisease.org

Expectations (prognosis):

How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.

Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.

Complications:

  • Seizures
  • Anemia
  • Thrombocytopenia
  • Bone problems
  • Reviewed last on: 2/14/2007
  • Leisha M. Andersen, M.D., Private Practice specializing in Pediatrics, Denver, CO. Review provided by VeriMed Healthcare Network.

References

Behrman RE. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders: 2004; 463-464.

Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.

Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb;90(2):122-5. Epub 2006 Nov 3.