Pancytopaenia

Question 1

Define pancytopaenia:

Answer 1

A deficiency of blood cells from ALL lineages

doesn’t tend to include lymphocytes

Question 2

What are the two main causes of pancytopenia?

Answer 2

Reduced production
OR
Increased destruction

Question 3

What are the main causes of decreased production?

Answer 3

Bone marrow failure:

Inherited (rare)
Acquired: primary (stem cell defect) or secondary

Question 4

What are the clinical features of Fanconi’s Anaemia?

Answer 4

Short stature
Skin pigment abnormalities e.g. cafe au lait spots
Radial ray abnormalities
Hypogenitalia
Endocrinopathies
GI defects
CV, Renal and Haem defects

Question 5

What is an example of an inherited bone marrow failure syndrome?

Answer 5

Fanconi’s Anaemia

Question 6

What is the haematological abnormality that causes Fanconi’s?

Answer 6

They are unable to correct inter-strand cross links (DNA damage)

Question 7

List some examples of acquired Primary bone marrow failures:

Answer 7

idiopathic aplastic anaemia
Myelodysplastic syndromes
Acute leukaemia

Question 8

What is the pathogenesis in aplastic anaemia?

Answer 8

Auto-reactive T cells releasing IFN and TNF against the long and short term stem cells, the

Question 9

How does acute leukaemia lead to pancytopaenia?

Answer 9

Proliferation of ABNORMAL cells (blasts) from the stem cells, which fail to differentiate/ mature
therefore normal stem cells cannot develop

Question 10

What is another name for pancytopaenia when there is clear decrease in the haemopoietic tissue of the bone marrow?

Answer 10

Aplastic anaemia

Question 11

What is the lifetime risk of developing leukemia in a patient with fanconi’s?

Answer 11

52% by age 40

Question 12

What is the risk of bone marrow failure occurring in patient with Fanconi’s?

Answer 12

84% by 20 y/o

Question 13

What is the common age of onset of pancytopaenia in children with Fanconi’s?

Answer 13

5-10 y/o

median = 7

Question 14

Define dysplasia:

Answer 14

Disordered growth or development of cells

Question 15

List some causes of secondary bone marrow failure:

Answer 15

• Drug induced e.g. chemo
• B12 / folate deficiency
• Infiltrative e.g. non haem malignancy
• Viral
• Storage disorders

Question 16

Hypersplenism causes pancytopaenia through ______ _____

Answer 16

Increased destruction

Question 17

List some causes of hypersplenism:

Answer 17

• portal hypertension
• congestive cardiac failure
• rheumatoid arthritis (Felty’s)
• Splenic lymphoma

Question 18

How does a folate / B12 deficiency lead to pancytopaenia?

Answer 18

(Chronic outcome)
B12 / Folate is responsible for lots of cellular DNA synthesis and nuclear maturation, in all lineages. When deficient, the lineages are all affected

Question 19

What are the three blood results of pancytopaenia?

Answer 19

Anaemia
Neutropaenia
Thrombocytopaenia

Question 20

List some important investigations for pancytopaenia:

Answer 20

FHx
FBC 
Blood film
LFTs
Auto-antibodies / virology
Bone marrow examination
Specialized tests incl. chromosome fragility test

Question 21

What syndrome is chromosome fragility testing done for?

Answer 21

Fanconi’s Syndrome

Question 22

Bone marrow with pancytopaenia with be hypocellular in _______?

Answer 22

Aplastic anaemia

Question 23

Bone marrow with pancytopaenia will be hypercellular in ________________________?

Answer 23

Myelodysplastic syndromes
B12 / folate deficiency
Hypersplenism

Question 24

List some of the supportive management options for pancytopaenia:

Answer 24

• RBC transfusion
• Platelet transfusion
• Neutrophil transfusion is not routinely done
• Prophylaxis antibiotics and anti-fungal

Question 25

What must you do if a patient with pancytopaenia presents with neutropaenic fever?

Answer 25

``` Treat immediately (with whatever guidelines say) DO NOT wait for micro results ```

Question 26

When might a bone marrow transplant be a reasonable management of pancytopaenia?

Answer 26

In congenital causes of primary bone marrow disorders