Inherited and Acquired Bone Marrow Failure Need-to-Know

Question 1

What is the problem in dyskeratosis congenita?

Answer 1

telomere defects

Question 2

Signs of dyskeratosis congenita?

Answer 2

bad fingernails

premature grey hair

Question 3

What is the problem in Fanconi anemia?

Answer 3

DNA repair

Question 4

Signs of Fanconi anemia?

Answer 4

1/3 normal

2/3 bone changes, extra thumb, short, small head, cafe au lait spots

Question 5

What is the test for Fanconi anemia?

Answer 5

DEB test

ox stresses cells

Question 6

Why do you do a DEB test?

Answer 6

you can’t give chemo until you know your patient doesn’t have a DNA defect (ie/Fanconi anemia)

Question 7

What is the cause of acquired aplastic anemia?

Answer 7

immune mediated response, T cells attack progenitor cells

Question 8

What is the preferred treatment for severe aplastic anemia?

Answer 8

HLA matched sibling BM transplant
under age 25/30
DO DEB TEST FIRST

Question 9

Second/third line Tx for aplastic anemia?

Answer 9

2) intensive immunosuppreive theory (ATG+CSA+Prednisone)

3) unrelated donor BMT

Question 10

Camitta criteria

Answer 10

Peripheral blood (2o3)
-PMN <20,000
BM: marked hypocellularity