SM9

Question 1

What is Gaucher disease?

Answer 1

A lysosomal storage disease when glucocerbroside derived from cell membranes of ages or damaged blood cells which are taken up by macrophages in liver, spleen and bone marrow. It accumulates in lysosomes d/t deficiency in the enzyme critical for its degradation (acid beta-glucosidase aka glucocerebrosidase).

Question 2

What is the effect of hypersplenism?

Answer 2

It does removes even healthy RBC, WBC and platelets from blood causing anemia (low RBC), thrombocytopenia (low platelets), and leukopenia (low WBC)

Question 3

Why do ppl with Gaucher get Erlenmeyer flask deformity and avascular necrosis?

Answer 3

abnormal bone modeling

Question 4

Gaucher is autosomal dominant.

Answer 4

F. It is autosomal recess. 1-40,000 -60,000 of general population.

Question 5

How is gaucher treated?

Answer 5

ERT. However extremely expensive, 400,000/year.