Bone Marrow Failure

Question 1

Where does haematopoiesis take place in adults normally and in increased demand?

Answer 1

1. Normally - central skeleton and proximal long bones

2. Extramedullary - liver and spleen

Question 2

What is pancytopenia?

Answer 2

Reduction in all major cells lines - RBCs, WBCs, platelets.

Question 3

What are the causes of pancytopenia?

Answer 3

1. Reduced marrow production - aplastic anaemia, neoplasia infiltration
2. Peripheral destruction - hyposplenism

Question 4

What are the signs and symptoms of pancytopenia grouped by cell type?

Answer 4

1. RBCs - lethargy, poor concentration, anorexia, pallor, SOB, tachycardia.
2. WBCs - fever, infection
3. Platelets - easy bruising, bleeding, menorrhagia, epistaxis, petechiae

Question 5

What is this describing?
Single lineage, inherited anaemia. Skeletal abnormalities, cardiac and urogenital malformation, cleft palate, increased risk of leukaemia.

Answer 5

Diamond-Blackfan anaemia

Question 6

What is this describing?

Single lineage, acquired anaemia. Caused by viruses, immune reactions and some medications.

Answer 6

Pure red cell aplasia

Question 7

What is this describing?
Single lineage, inherited thrombocytopenia. No radius bone, associated with lactose intolerance, cardiac and kidney problems.

Answer 7

Thrombocytopenia with absent radii

Question 8

What is this describing?
Inherited pancytopenia. Short stature, endocrine problems, skin pigmentations, abnormalities of arms, eyes, kidneys and ears. Increased risk of cancer (AML).

Answer 8

Fanconi anaemia

Question 9

What is this describing?

Inherited pancytopenia. Skin pigmentation, nail dystrophy and oral leucoplakia with progressive bone marrow failure.

Answer 9

Dyskeratosis congenita

Question 10

What is this describing?
Inherited pancytopenia. Predominantly neutropenia, but all 3 lines affected, exocrine pancreatic dysfunction, growth retardation.

Answer 10

Schwachman-Diamond-Pearson

Question 11

What is this describing?
Acquired pancytopenia. Hypocellular bone marrow, no abnormal cells and no fibrosis. Caused by drugs, viruses and immune reactions.

Answer 11

Aplastic anaemia

Question 12

What is this describing?

Acquired pancytopenia. Abnormal cells in bone marrow that do not mature properly.

Answer 12

Leukaemia or myelodysplastic syndrome

Question 13

What is this describing?
Acquired pancytopenia. Defective blood cells (especially RBCs, complement destruction). Results in haemolysis, haemoglobinuria. Degree of bone marrow dysfunction and risk of life threatening blood clots.

Answer 13

Paroxysmal nocturnal haemoglobinuria

Question 14

What are the causes of aplastic anaemia?

Answer 14

1. Predictable - radiation, chemotherapy
2. Idiosyncratic - drug induced not dose related
3. Viral - hepatitis/EBV/CMV/HIV
4. Idiopathic autoimmune - majority of cases

Question 15

How is aplastic anaemia diagnosed?

Answer 15

FBC, blood film, bone marrow biopsy is diagnostic, viral studies, LFTs.

Question 16

What is the treatment for aplastic anaemia?

Answer 16

1. Mainly supportive if asymptomatic (blood products and Abx)
2. Neutropenic regime if WCC <0.5x10^9/L
3. Allogenic marrow transplant from HLA-matching sibling (can be curative) treatment of choice.
4. Otherwise immunosuppression with ciclosporin may be effective but not curative.

Question 17

What are the complications of aplastic anaemia?

Answer 17

Risk of infection, iron overload from continual blood transfusions, reduced QoL.

Question 18

What is the cause of transient red cell aplasia and therefore what is a common clinical finding?

Answer 18

1. Infection with parvovirus B19

2. Slapped cheek syndrome

Question 19

What is the emergency management for neutropenic sepsis?

Answer 19

1. A-E
2. Suspect if patient received chemotherapy in last 6 weeks or otherwise at risk of neutropenia.
3. Patient will be hypotensive and tachycardic with a low neutrophil count.
4. Broad spectrum Abx without delay (amikacin and tazocin)