2.05 pancytopenia

Question 1

phenotype of fanconi’s anaemia?

Answer 1

short
skin pigment abnormal - cafe au lait
radial ray abnormal- fingers missing etc.
hypogenitalia
endocrinopathies
GI defects
cardiovascular/renal/haematological defects

Question 2

unable to correct interstrand cross-links

inherited haematological abnormalities

Answer 2

fanconi’s anaemia

Question 3

sequence of blood abnormalities in fanconi’s anaemia

Answer 3

macrocytosis
thrombocytopenia
neutropenia

Question 4

risk of aplasia (bone marrow failure) in fanconi’s anaemia by age 20

Answer 4

84%

Question 5

leukaemia risk in fanconi’s anaemia by age 40

Answer 5

52%

Question 6

aplastic anaemia

Answer 6

autoimmune attack against haemopoietic stem cell

Question 7

increased apoptosis of progenitor and mature cells

Answer 7

myelodysplastic syndromes

Question 8

drug causes of aplasia

Answer 8

chemotherapy
chloramphenicol
alcohol

Question 9

deficiencies that cause aplasia

Answer 9

b12

folate

Question 10

causes of hyperspleenism

Answer 10

portal hypertension
congestive heart failure
rheumatoid arthritis- felty’s
myelofibrosis

Question 11

hypocellular bone marrow

Answer 11

aplastic anaemia

Question 12

hypercellular bone marrow + pancytopenia

Answer 12

myelodysplastic syndromes
b12/folate deficiency- maturation failure
hyperspleenism

Question 13

Treatment of neutropaenia + sepsis + sews

Answer 13

piperacillin/tazobactam

no routine gentamicin

Question 14

neutropaenia + severe sepsis/septic shock or

sews greater or equal to 6, acute leukaemia, or allogenic transplant

Answer 14

pip/tazo

gentamicin