What are the 3 types of Gaucher Disease?

What are the 3 types of Gaucher Disease?

There are three varieties of type 3 Gaucher: 3a, 3b, and 3c. But these forms sometimes overlap in symptoms. Type 3b may cause liver or spleen problems earlier….Cardiovascular Gaucher may also cause these symptoms in kids:

  • Eye problems.
  • Bone pain.
  • Bones break easily.
  • Mildly enlarged spleen.

What is Gaucher disease PDF?

Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen, bone, and bone marrow. Patients develop anemia, thrombocytopenia, hepatosplenomegaly, bone infarcts, aseptic necrosis of bone, and osteoporosis.

What are symptoms of Gaucher disease?

What are the symptoms of Gaucher disease?

  • Enlarged spleen.
  • Enlarged liver.
  • Eye movement disorders.
  • Yellow spots in the eyes.
  • Not having enough healthy red blood cells (anemia)
  • Extreme tiredness (fatigue)
  • Bruising.
  • Lung problems.

What is Gaucher’s disease?

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

How is Gaucher’s disease diagnosed?

The enzyme assay test is known as BGL (beta-glucosidase leukocyte) blood test. This is a standard tool used by physicians to diagnose someone who is thought to have Gaucher disease, because usually these patients have low glucocerebrosidase enzyme activity.

Is there another name for Gaucher disease?

Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected.

Which enzyme is deficient in Gaucher disease?

Gaucher disease is an inherited metabolic disorder. It’s passed down through families. People with Gaucher disease don’t have enough of an enzyme called glucocerebrosidase (GCase). Enzymes like GCase are proteins that perform several tasks, including breaking down fats (sphingolipids) in the body.

How is Gaucher diagnosed?

What is Gaucher disease treatment?

Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.

What is the treatment for Gaucher disease?