What is Gaucher Disease?

What is Gaucher Disease?
Gaucher disease is an inborn error of metabolism caused deficiency of an enzyme called glucocerebrosidase. This results in the accumulation of a complex lipid, glucocebroside, in multiple organs, such as liver, spleen, and bone marrow. It can manifest since early childhood trough adolescent, or even adulthood. 

Figure 1. Gaucher disease is caused by deficiency of beta-glucocerebrosidase

How rare is Gaucher disease?
Incidence of Gaucher disease is 1:40.000 individuals in normal population. Both male and female babies have the same risk to have this disease because it is inherited autosomal recessively.

What are the symptoms of Gaucher disease?
There are three types of Gaucher disease. Type II and III are the neuropathic form, in which they involves the central nervous system. 
The common symptoms include liver and spleen enlargement, bone pain, anemia, and bleeding due to thrombocytopenia. 

How to diagnose Gaucher disease? 
Initial examination includes bone survey which can reveal a characteristic finding, Erlenmeyer flask (Figure 2). Bone marrow aspiration is performed to find Gaucher cells. Confirmatory test is done by demonstrating low levels of beta-glucocerebrosidase activity or GBA1 gene mutation analysis. 

   
Figure 2. (a) Patient with Gaucher disease have enlarged abdomen due to hepatosplenomegaly; (b) Erlenmeyer flask found on bone survey

What is the available treatment for Gaucher disease?

One of the available treatment at the time is enzyme replacement therapy. This treatment is given as long-life therapy. 

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