BM failure

Question 1

Closely linked with leukaemia + PNH

Answer 1

Aplastic anaemia

Question 2

Is primary or secondary BM failure more common?

Answer 2

Secondary

Question 3

Secondary causes of BM failure

Answer 3

• Marrow infiltration (may be haematological e.g. lymphoma, myelofibrosis, blasts in leukaemia OR non-haematological - solid mets in breast, thyroid Ca)
• Radiation
• Chemicals (benzene)
• AI (SLE)
• Infection (Parvovirus, viral hepatitis)
• Drugs

Question 4

Drugs causing BM failure

Answer 4

Cytotoxic drugs
Phenylbutazone
Gold salts
Abx - chloramphenicol, sulphonamide
Diuretics - thiazides
Anti-thyroid drugs - carbimazole
NSAIDs

Question 5

Bimodal incidence of 15-24 (us) and >60 (lecturer)
Pancytopenia
Hypocellular BM with big fat spaces
Camitta criteria

Answer 5

Aplastic anaemia

Question 6

What are the Camitta criteria?

Answer 6

2 out of 3 of peripheral blood features:
1. Reticulocytes <1%
2. Neutrophils <0.5
3. Platelets <20
with BM <25% cellularity
(Used to categorise AA into severe + non-severe)

Question 7

What is the Tx for AA?

Answer 7

1. If cause is known seek + remove
2. Supportive therapy - transfusion, Abx, iron chelation to prevent haemochromatosis
3. Specific therapies: immunosuppressive (older), androgens (e.g. oxymethalone) can help BM recovery, allo-SCT

Question 8

Pancytopenia
Chromosome fragmentation
5-10yo with short stature, Cafe au Lait spots, microopthalmiaa, dev delay

Answer 8

Fanconi anaemia

30% get MDS

Question 9

Pancytopenia
Telomere shortening
Triad of skin pigmentation + nail dystrophy + oral leukoplakia

Answer 9

Dyskeratosis congenita

Question 10

Neutrophilia
AML risk
Skeletal, endocrine / pancreatic dysfunction, hepatic impairment, small

Answer 10

Schawachman-Diamond syndrome

Question 11

Pure red cell aplasia (anaemia only)
Neonatal presentation
Craniofacial + cardiac abnormalities

Answer 11

Diamond-Blackfan anaemia