Pancytopenia

Question 1

What is pancytopenia?

Answer 1

Deficiency of blood cells from all lineages (except lymphocytes)

Question 2

What are the underlying mechanisms of pancytopenia?

Answer 2

Reduced production or increased destruction of blood cells

Question 3

What is the most common cause of reduced production of blood cells?

Answer 3

Bone marrow failure = usually acquired (primary or secondary), rarely inherited

Question 4

What features would suggest an inherited bone marrow failure?

Answer 4

Cancer predisposition, congenital abnormalities and impaired haemopoiesis

Question 5

What is an example of an inherited bone marrow failure?

Answer 5

Fanconi’s anaemia = failure of interstrand cross links

Question 6

What is the progression of blood abnormalities in Fanconi’s anaemia?

Answer 6

Macrocytosis - thrombocytopenia - pancytopenia

Question 7

What are the features of Fanconi’s anaemia?

Answer 7

Short stature, cafe au-lait macules, hypogenitalia, endocrinopathy, GI defects, increased risk of aplasia and leukaemia

Question 8

What characterises primary marrow failure?

Answer 8

Defects in stem cells

Question 9

What are some causes of primary marrow failure?

Answer 9

Idiopathic anaplastic anaemia
Myelodysplastic syndrome
Acute leukaemia

Question 10

What occurs in idiopathic anaplastic anaemia?

Answer 10

T cells attack haemopoietic stem cells = reduces number of blood cells produced

Question 11

How does acute leukaemia cause reduced production of blood cells?

Answer 11

Abnormal leukaemic cells out-proliferate normal cells

Question 12

What occurs in myelodysplastic syndrome?

Answer 12

Disordered development = hypercellualr anaemia, increased apoptosis of progenitor and mature cells

Question 13

What can myelodysplastic syndrome progress to?

Answer 13

Acute myeloid leukaemia

Question 14

What are some causes of secondary marrow failure?

Answer 14

Drugs, B12/folate deficiency, lymphoma and metastases, viral infection, storage disease

Question 15

What is the main cause of increased cell destruction?

Answer 15

Hypersplenism = increased splenic pool and usually associated with splenomegaly

Question 16

What are some causes of hypersplenism associated with splenomegaly?

Answer 16

Portal hypertension, rheumatoid arthritis, splenic lymphoma

Question 17

What do the clinical features of pancytopenia reflect?

Answer 17

Lack of circulating blood cells and the underlying cause of the pancytopenia

Question 18

What is the triad of abnormalities associated with pancytopenia?

Answer 18

Anaemia, neutropenia, thrombocytopenia

Question 19

What are the clinical features of pancytopenia?

Answer 19

Anaemia = fatigue, SOB, CV compromise
Neutropenic = infection (fungal, systemic bacterial)
Thrombocytopenic = bleeding, purpura, petechiae

Question 20

What are some tests used to establish the cause of pancytopenia?

Answer 20

History and clinical findings, FBC and blood film, B12/folate, LFTs, virology, autoantibody tests, bone marrow examination

Question 21

What are some specialised tests done to investigate pancytopenia?

Answer 21

Chromosome fragility testing, NGS, WES

Question 22

What are some causes of hypocellular marrow?

Answer 22

Idiopathic anaplastic anaemia, drugs

Question 23

What are some causes of hypercellular marrow?

Answer 23

Myelodysplastic syndrome, B12/folate deficiency, hypersplenism

Question 24

What are the supportive treatments for pancytopenia?

Answer 24

Replacement = red cell and platelet transfusion
Anti-biotic and fungal prophylaxis
Always treat neutropenic fever with antibiotics before getting culture results

Question 25

How are primary bone marrow disorders treated?

Answer 25

Malignancy = chemotherapy
Congenital = bone marrow transplant
Aplastic anaemia = immunosuppression

Question 26

How are secondary bone marrow disorders treated?

Answer 26

Treat viral infection
Stop causative drug
Replace B12/folate

Question 27

How is hypersplenism managed?

Answer 27

Treat cause and consider splenectomy