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Gaucher Disease By: Taylar Heinemann - Coggle Diagram
Gaucher Disease By: Taylar Heinemann
What is it?
It is inherited
Type of fat (glucocerebroside) cannot be adequately degraded
Glucocerebroside builds up in the liver, spleen, bone marrow, and nervous system, which interferes with normal functioning
Three types of Gaucher disease
Occurs in about 1 in 50,000 to 1 in 100,000 people.
Symptoms:
Vary greatly among those who have the disorder
Type 2
Include Type 1 symptoms
Severe problems begin in infancy
Usually do not live past age 2
eye problems
seizures
brain damage
Type 3
Symptoms before age 2
Include Type 1 symptoms
Slowing horizontal eye movements
Disease progresses slower
Type 1
bone disease
hepatosplenmegaly
anemia
thrombocytopenia
lung disease
Common Symptoms among all Types
enlargement of liver and spleen
anemia
easily bruised
bone disease
How is it diagnosed?
laboratory testing
blood test to measure activity level of glucocerebrosidase
DNA analysis of GBA gene for mutations
observation on clinical symptoms
How is it treated?
Enzyme replacement therapy
Spleen removal
Blood transfusions
Pain medication
Joint replacement surgery