Pancytopenia and Bone Marrow Failure

Question 1

What is pancytopenia?

Answer 1

Reduction in the number of RBC, WCC and platelets so you have an anaemia, thrombocytopenia and leukopenia

Question 2

What are the groups of causes for a pancytopenia?

Answer 2

Bone marrow failure,
Clonal disorders of bone marrow cells, non-immune or immune destruction of cells

Question 3

What are causes of a pancytopenia which are caused by decreased bone marrow production?

Answer 3

Chemotherapy and radiotherapy,
Megaloblastic anaemia,
Bone marrow infiltration (malignant commonly),
Lysosomal storage disorders (Gaucher’s disease - splenomegaly and hypersplenism)

Question 4

What are causes of a pancytopenia which are caused by clonal disorders of haematopoiesis

Answer 4

Myelodysplastic syndrome (ineffective and dysplastic haematopoiesis),
Paroxysmal nocturnal haemoglobinuria

Question 5

What are causes of a pancytopenia which are caused by bone marrow failure?

Answer 5

Fanconi anaemia (X linked inheritence)
Dyskeratosis congenita,
Idiopathic aplastic anaemia

Question 6

What are causes of a pancytopenia which are caused by increased destruction or sequestration?

Answer 6

These cause pancytopenia due to functional hypersplenism:
Liver disease associated with portal hypertension.
Myeloproliferative disorders (CML with splenomegaly),
Infections which cause hypersplenism,
Haemophagocytic eg, haemophagocytic lymphohistiocytosis (HLH)

Question 7

What are causes of a pancytopenia which are caused by immune mediated destruction of blood cells?

Answer 7

Drug induced pancytopenia,
Autoimmune lymphoproliferative syndrome

Question 8

What are causes of a pancytopenia which are caused by a combination of reduced production and increased destruction/sequestration?

Answer 8

Connective tissue diseases (RA and SLE),
CMV,
Mycobacterial infection,
Infectious mononucleosis,
HIV
Felty’s syndrome

Question 9

What is the diagnosis of aplastic anaemia?

Answer 9

2 of the following:
Anaemia with Hb < 10 g/L
Thrombocytopenia with platelets < 50
Neutropenia with neutrophil count < 1.5

Question 10

What are the signs and symptoms of aplastic anaemia?

Answer 10

Fatigue and pallor,
Infection,
Easy bruising and bleeding

Question 11

What are the investigations for aplastic anaemia?

Answer 11

FBC,
Bone marrow aspiration and biopsy,
Cytogenic testing,
Haematopoietic stem cell studies (determines ability of bone marrow to generate blood cells)
Immunological assay

Question 12

What is the management of aplastic anaemia?

Answer 12

Supportive care: Manage infections and bleeding,
Haematopietic stem cell transplant,
Immunosurpessive therapy,
Blood transfusions,
pregnancy associated aplastic anaemia will resolve after pregnancy but may require supportive care

Question 13

Describe features of Fanconi Anaemia

Answer 13

Autosomal recessive condition which causes aplastic anaemia, increased risk of AML, neurological conditions, short stature, thumb abnormalities and cafe au lait spots