haematology - aplastic anaemia

Question 1

define aplastic anaemia

Answer 1

inability of BM to produce adequate blood cells

closely linked to: leukaemia, PNH

any age

Question 2

classification of AAs

Answer 2

primary
- idiopathic (70%): unexplained pathology, NGS mutations
-inherited (10%)

secondary (10-15%)
malignant infiltration, radiation, drugs, viruses, AI disease

Question 3

management of AAs

Answer 3

supportive - transfusions, abx, iron chelation

GFs and oxymethalone (androgen) - promote BM recovery

immunosuppressants - for idiopathic AA

SCT

Question 4

inherited AA syndromes

Answer 4

fanconi anaemia
dyskeratosis congenita
schwachman-diamond syndrome
diamond-black fan syndrome

Question 5

fanconi anaemia

Answer 5

autosomal recessive
presents at 5-10yrs

pancytopenia
skeletal abnormalities
renal malformations
microopthalmia
short stature
skin pigmentation

AML risk

Question 6

dyskeratosis congenita

Answer 6

X-linked
chromosome instability (telomere shortening)

skin pigmentation
nail dystrophy
oral leukoplakia
BM failure

Question 7

schwachman-diamond syndrome

Answer 7

autosomal recessive

neutrophilic +/- others

skeletal abnormalities
endocrine/pancreatic dysfunction
hepatic impairment
short stature

AML risk

Question 8

diamond-black fan syndrome

Answer 8

pure red-cell aplasia
normal WCC and platelets
presents neonatal/1yr

dysmorphology