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Gaucher Disease - autosomal recessive inherited disorder - Coggle Diagram
Gaucher Disease - autosomal recessive inherited disorder
Glucocerebroside (fat) can not be adequately degraded
Causes the lipid to build up in the liver, spleen, bone marrow, and nervous system
Interferes with normal functioning
3 Types
Type 1 - Most Common - does not affect nervous system - may appear early in life or adulthood - many don't have problems
Type 1 occurs more in frequently in those of Ashkenazi Jewish descent
1:14 is a carrier
Type 2 - Affects the nervous system - serious medical problems - begins in infancy
Unusual forms that don't fit in with others
Type 3 - Similar to type 2 - progresses more slowly
Occurs in 1:50,000 - 1:100,000
Symptoms
Enlargement of Liver or Spleen
Low number or red blood cells
Easily bruised, low platelets
Bone disease (bone pain and fractures)
Severe cases may have heart, lung, and nervous system problems
Type 2 and 3 Specific Symptoms
Type 1 problems plus:
Eye problems
seizures
Brain damage
Don't typically live past age two
Severe skin problems
Excessive fluid accumulation
Diagnosis
Clinical and Laboratory tests
Treatments
Enzyme replacement therapy
Slows/Stops progression
May reverse some symptoms