Bone marrow failure

Question 1

Explain how bone marrow failure is classified- 2 main categories

Answer 1

Inherited

Acquired

Question 2

what is neutropenic sepsis?

Answer 2

life threatening complication of chemotherapy

Question 3

What is pancytopenia?

Answer 3

Loss of cells/ problem with cells in all 3 lineage lines (RBC, WBC and platelets)

Question 4

Main symptoms and signs of RBC disorder

Answer 4

Lethargy, poor concentration, loss of appetite, pale skin, shortness of breath, tachycardia, reduced exercise tolerance

Question 5

Main signs and symptoms of WBC disorder

Answer 5

Fevers and infections – esp urine, chest, sinus and skin, sore mouth

Question 6

Main signs and symptoms of platelet disorder

Answer 6

Easy bruising and bleeding, menorrhagia, epistaxis, petechiae, gum bleeding

Question 7

3 examples of single lineage inherited BMF

Answer 7

anaemia
neutropenia
thrombocytopenia

Question 8

3 examples of an inherited pancytopenia BMF

Answer 8

Fanconi anaemia

Dyskeratosis Congenita

Shwachman-Diamond
Pearson

Question 9

example of single lineage acquired BMF

Answer 9

pure red cell aplasia

Question 10

3 causes of pure red cell aplasia

Answer 10

viral
immune
drugs

Question 11

3 examples of acquired pancytopenia BMF

Answer 11

aplastic anaemia
BM infiltration
paroxysmal nocturnal haemoglobinuria

Question 12

How is aplastic anaemia diagnosed?

Answer 12

absence of cells

Question 13

5 causes of aplastic anaemia

Answer 13

radiation
high dose chemo
drug induced
chloramphenicol 
hepatitis
idiopathic

Question 14

Pathogenesis of aplastic anaemia

Answer 14

unclear- probably AI

demonstrated increased progressive shortening of the terminal restriction fragments of chromosomes resulting in telomere shortening

Question 15

6 Ix for aplastic anaemia

Answer 15

FBC, blood film, reticulocyte count, BM, viral studies, LFTs

Question 16

3 things to exclude when diagnosing aplastic anaemia

Answer 16

paroxysmal nocturnal haemoglobinuria

malignant hypocellular disease

late px of congenital forms of anaemia

Question 17

3 complications of aplastic anaemia

Answer 17

infection
iron overload
transformation to acute leukaemia

Question 18

4 categories of tx for aplastic anaemia

Answer 18

supportive
immunosuppression
growth factors
haemopoietic SCT

Question 19

Pathogenesis of Fanconi anaemia

Answer 19

AR disorder with progressive pancytopenia

high freq chromosome breakages

increased predisposition to malignancies

Question 20

5 body systems Fanconi’s anaemia affects

Answer 20

skin
skeletal
GU
cardiac
neurological

Question 21

3 symptoms of Fanconi anaemia

Answer 21

cafe au lait skin
no thumbs
horseshoe kidneys

Question 22

Tx for fanconi anaemia

Answer 22

BMT
supportive tx e.g blood transfusions
steroids
androgens

Question 23

how to diagnose BMF

Answer 23

low blood counts–> urgent evaluation referral–> repeat FBC and blood film

Other tests include- LFT, retics, B12, folate, ferritin, hx, BM biopsy

Question 24

emergency tx of neutropenic sepsis

Answer 24

Broad spec Abx immediately

Question 25

5 causes of thrombocytopenia

Answer 25

``` congenital BM infiltration drugs- omeprazole septicaemia microangiopathic didease ```