Gaucher's Disease

Question 1

How many types of Goucher’s disease are there?

Answer 1

3 Types

Question 2

What is the genetic inheritance of all 3 types of Gaucher’s disease?

Answer 2

Autosomal recessive

Question 3

Give a brief outline of the pathophysiology of Gaucher’s disease?

Answer 3

It is a lysosomal storage disease and as such glucosylceramide accumulates in various organs like the bone marrow, liver, spleen and lungs.

CNS accumulation only occurs in type 2 and 3.

Question 4

How does type type 1 Gaucher’s disease present and how does this differ in type 2 and 3?

Answer 4

Type 1 - Chronic fatigue, Hepatomegaly, splenomegaly & bone pain. May bruise easily or with nosebleeds. May have pulmonary infiltrates.

Type 2 - Presents in infancy with increased tone, strabismus and organomegaly. Failure to thrive. Neurodegeneration occurs and death occurs in the first 2 years of life.

Type 3 - Presents in infancy with neurodegenerative problems.