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Gauchers Disease

Gaucher's disease is the most common of the lipid storage diseases. Gaucher's disease is caused by a deficiency of an enzyme called glucocerebrosidase, which breaks down glucocerebroside. Fatty material can collect in the spleen , liver, kidneys , lungs , brain and bone marrow. The first category, called type 1 , is by far the most common. Patients in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. Type 2 (or acute infantile neuropathic Gaucher disease) typically begins within 6 months of birth. Symptoms include an enlarged liver and spleen, extensive and progressive brain damage, eye movement disorders spasticity seizures limb rigidity and a poor ability to suck and swallow. Affected children usually die by age 2. Type 3 (the chronic neuronopathic form) can begin at any time in childhood or even in adulthood. Major symptoms include an enlarged spleen and/or liver seizures poor coordination skeletal irregularities eye movement disorders blood disorders including anemia and respiratory problems. Patients often live into their early teen years and adulthood.

Gaucher disease is an inherited illness caused by a gene mutation. Gaucher disease is most common in Ashkenazi Jews (those of European origin), however, variants have been described in all ethnic groups. In people with Gaucher disease, the body is not able to properly produce this enzyme, and the fat can not be broken down. Gaucher disease can result in pain, fatigue, jaundice, bone damage, anemia, and even death. Affected patients frequently have no symptoms, however, variants where symptoms appear in childhood are inevitably fatal. Gaucher's disease is an autosomal recessive disorder. This means that both parents must carry the gene defect in order to pass the disease to their children. If both parents have the gene defect, each child has a 50 percent chance of developing the disease, a 25 percent chance of not being affected at all, and a 25 percent chance of being a carrier of the gene. Gaucher-like disease chiefly affects the heart, but may also cause bone disease and mild enlargement of the spleen. In 1991, enzyme replacement therapy became available as the first effective treatment for Gaucher disease. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravenously. Enzyme replacement therapy can stop and often reverse the symptoms of Gaucher disease, allowing patients to enjoy a better quality of life.

Causes of Gauchers Disease

The common Causes of Gauchers Disease :

  • Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase.
  • Instead of degrading naturally, glucocerebroside builds up in the spleen, liver, lungs, and bone marrow.
  • Deficiency of the enzyme glucocerebrosidase causes the lysosomes to become congested with glucosylceramide.
  • Type 1 Gaucher disease demonstrates remarkable clinical variation. Presumably, the amount of residual enzymatic activity determines disease subtype and severity
  • Recently, the molecular basis of Gaucher disease was identified for 90-95% of patients of Ashkenazi Jewish descent, and a number of other mutations have been described in other populations.
  • This abnormal storage causes the cells to vary in shape and have one or several eccentrically placed nuclei.

Symptoms of Gauchers Disease

Some Symptoms of Gauchers Disease :

  • Severe edema at birth
  • Enlarged liver (hepatomegaly)
  • Fatigue
  • Skin changes
  • Heart valve problems
  • Bone pain and fractures
  • Easy bruising
  • Cognitive impairment
  • Seizures
  • Lung disease

Treatment of Gauchers Disease

  • Replacing the missing enzyme intravenously in patients to type I disease
  • Enzyme replacement therapy, which reduces liver and spleen size, improves blood counts and reduces skeletal anomalies
  • This is used only in patients with severe clinical symptoms and bone abnormalities. If it is successful, it provides a lifelong cure.
  • Removal of the spleen, in cases where the patient is anemic has leucopoenia or low blood platelets. Anemic patients may also need transfusions.
  • The surgical removal of the spleen. It may be done if enzyme replacement therapy is not available.
  • DNA testing
  • Miglustat (Zavesca), an oral medication that inhibits production of glucocerebroside
  • The diagnosis of Gaucher disease is confirmed by a special blood test.

 


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