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Gaucher disease

Glucocerebrosidase deficiency; Glucosylceramidase deficiency; Lysosomal storage disease - Gaucher

 

Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA).

Causes

 

Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease.

It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the disease gene to their child in order for the child to develop the disease. A parent who carries an abnormal copy of the gene but doesn't have the disease is called a silent carrier.

The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. These substances prevent cells and organs from working properly.

There are 3 main subtypes of Gaucher disease:

  • Type 1 is most common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). Type I affects both children and adults. It is most common in the Ashkenazi Jewish population.
  • Type 2 usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
  • Type 3 may cause liver, spleen, and brain problems. People with this type may live into adulthood.

 

Symptoms

 

Bleeding because of low platelet count is the most common symptom seen in Gaucher disease. Other symptoms may include:

  • Bone pain and fractures
  • Cognitive impairment (decreased thinking ability)
  • Easy bruising
  • Enlarged spleen
  • Enlarged liver
  • Fatigue
  • Heart valve problems
  • Lung disease (rare)
  • Seizures
  • Severe swelling at birth
  • Skin changes

 

Exams and Tests

 

The health care provider will perform a physical exam and ask about the symptoms.

The following tests may be done: 

  • Blood test to look for enzyme activity
  • Bone marrow aspiration
  • Biopsy of your spleen
  • MRI
  • CT
  • X-ray of your skeleton
  • Genetic testing

 

Treatment

 

Gaucher disease can't be cured. But treatments can help control and may improve symptoms.

Medicines may be given to:

  • Replace the missing GBA (enzyme replacement therapy) to help reduce spleen size, bone pain, and improve thrombocytopenia.
  • Limit production of fatty chemicals that build up in the body.

Other treatments include:

  • Medicines for pain
  • Surgery for bone and joint problems, or to remove the spleen
  • Blood transfusions 

 

Support Groups

 

For more information contact:

 

Outlook (Prognosis)

 

How well a person does depends on their subtype of the disease. The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5.

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

 

Possible Complications

 

Complications of Gaucher disease may include:

  • Seizures
  • Anemia
  • Thrombocytopenia
  • Bone problems

 

Prevention

 

Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if a baby in the womb has Gaucher syndrome.

 

 

References

Kliegman RM, Stanton BF, St. Geme JW, Schor NF. Defects in metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 86.

Krasnewich DM, Sidransky E. Lysosomal storage diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 208.

 
  • Bone marrow aspiration

    Bone marrow aspiration - illustration

    A small amount of bone marrow is removed during a bone marrow aspiration. The procedure is uncomfortable, but can be tolerated by both children and adults. The marrow can be studied to determine the cause of anemia, the presence of leukemia or other malignancy, or the presence of some storage diseases, in which abnormal metabolic products are stored in certain bone marrow cells.

    Bone marrow aspiration

    illustration

  • Gaucher cell, photomicrograph

    Gaucher cell, photomicrograph - illustration

    Gaucher disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.

    Gaucher cell, photomicrograph

    illustration

  • Gaucher cell, photomicrograph #2

    Gaucher cell, photomicrograph #2 - illustration

    Gaucher disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.

    Gaucher cell, photomicrograph #2

    illustration

  • Hepatosplenomegaly

    Hepatosplenomegaly - illustration

    In Gaucher disease, liver and spleen enlargement (hepatosplenomegaly) can occur as the result of the liver not processing glucocerebroside properly. The buildup of this substance in body tissues can also lead to severe damage to the central nervous system in infants.

    Hepatosplenomegaly

    illustration

    • Bone marrow aspiration

      Bone marrow aspiration - illustration

      A small amount of bone marrow is removed during a bone marrow aspiration. The procedure is uncomfortable, but can be tolerated by both children and adults. The marrow can be studied to determine the cause of anemia, the presence of leukemia or other malignancy, or the presence of some storage diseases, in which abnormal metabolic products are stored in certain bone marrow cells.

      Bone marrow aspiration

      illustration

    • Gaucher cell, photomicrograph

      Gaucher cell, photomicrograph - illustration

      Gaucher disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.

      Gaucher cell, photomicrograph

      illustration

    • Gaucher cell, photomicrograph #2

      Gaucher cell, photomicrograph #2 - illustration

      Gaucher disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.

      Gaucher cell, photomicrograph #2

      illustration

    • Hepatosplenomegaly

      Hepatosplenomegaly - illustration

      In Gaucher disease, liver and spleen enlargement (hepatosplenomegaly) can occur as the result of the liver not processing glucocerebroside properly. The buildup of this substance in body tissues can also lead to severe damage to the central nervous system in infants.

      Hepatosplenomegaly

      illustration

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for Gaucher disease

           

             

            Review Date: 10/30/2016

            Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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