Rare Disease Report

Rare Disease Spotlight: Gaucher Disease

OCTOBER 16, 2015
Rebekah Harrison
Gaucher disease is an inherited genetic disorder that affects many of the body's organs and tissues. There are a few forms of Gaucher.
Type 1, also called non-neuronopathic Gaucher disease because the brain and spinal cord are usually not affected. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system but it tends to worsen more slowly than type 2.
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population however it is fairly common in certain populations such as Ashkenazi Jews.

Signs and Symptoms

  • Painless hepatomegaly and splenomegaly. Splenomegaly may decrease the affected individual's capacity for eating by exerting pressure on the stomach. While painless, enlargement of spleen increases the risk of splenic rupture.
  • Hypersplenism and pancytopenia
  • Severe pain associated with joints and bones occurs.
  • Neurological symptoms occur only in some types of Gaucher    

               Type I: impaired olfaction and cognition
               Type II: serious convulsions, hypertonia, mental retardation, and    
               Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia

  • Osteoporosis
  • Yellowish-brown skin pigmentation


  • Lab Tests; Bbood samples can be checked for levels of the enzyme associated with Gaucher's disease. Genetic analysis can also reveal whether you have the disease.
  • Imagining Tests
  •  Preconception screening and prenatal testing

Treatment Options

 Medical Therapy

  • Enzyme Replacement Therapy (ERT). This approach replaces the deficient enzyme with artificial enzymes. These replacement enzymes are administered in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people experience an allergic or hypersensitivity reaction to enzyme treatment.
    • Cerezyme (imiglucerase for injection):  Cerezyme is the gold standard for ERT and has been treating people with Gaucher disease since 1994. It is administered by intravenous infusion every 2 weeks.
    • Vpriv (velaglucerase alfa for injection): Vpriv was approved in March 2010 of Vpriv and has also been shown to relieve or reverse many of the signs and symptoms of Type 1 Gaucher disease.  It is also an enzyme replacement therapy and administered by intravenous infusion every 2 weeks.
    • Elelyso (taliglucerase alfa): Elelyso was approved by the FDA in June 2012 for the treatment of Gaucher disease type 1.  It has not been given approval in Europe (based on the argument that Elelyso and Vpriv are too similar).  The key biochemical difference of Elelyso compared to the above enzyme replacement therapies is that it is derived from plant (carrot). It is administered by intravenous infusion every 2 weeks.
  • Substrate Reduction Therapy. These medications inhibit production of the problem substances. There are currently 2 oral medications available. Nausea and diarrhea are common side effects. ·
    • Zavesca (miglustat). This medication is for patients who cannot take enzyme replacement therapy. Zavesca® was approved by the FDA in July 2003. It is an oral medication (3 times per day).
    • Cerdelga (eliglustat): Cerdlelga is the first non ERT that can be used instead of ERT (unlike Zavesca that is only approved for patients who cannot take ERT). It was approved in 2014. It is taken orally once a day.    
  • Bone marrow transplantation. In this procedure, blood-forming cells that have been damaged by Gaucher are removed and replaced, which can reverse many of Gaucher signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
  • Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher's disease. Currently, this procedure is typically reserved as a last resort.


The National Gaucher Foundation has a mentor program that connects people who have the disease. To find out more, you can visit its website.

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