Aplastic anaemia Flashcards
1
Q
Aplastic anaemia
- describe
- Primary
- secondary
- Rx (3)
A
Inability of BM to produce adequate cells, HSCs are reduced. AA can also give pancytopenia, & is closeley related to leukaemia & PNH
classification
primary
- idiopathic - 70%
- inherited - 10%
Secondary (10-15%) - malignant infiltration, radiation, drugs, viruses, SLE
Rx: supportive - transfusions, iron chelation, drugs - to promote marrow recovery e.g. growth factors, Immunosuppressants - idiopathic AA, SCT
2
Q
Fanconi anaemia:
- features (4)
A
Autosomal recessive - pancytopenia
presents 5-10yrs
F
- skeletal abnormalities (radii, thumbs)
- renal malformations
- microopthalmia
- short stature
- skin pigmentation
MDS (30%), AML risk 10% progress
3
Q
Dyskeratosis congenita
triad
A
X-linked, chromosome instability (telomere shortening)
- skin pigmentation
- nail dystrophy
- oral leukoplakia
4
Q
Schwachman-Diamond syndrome
features (3)
A
AR, primarily neutrophilia
- skeletal abnormalities
- endocrine/pancreatic malfunction
- hepatic impairment
- short stature
5
Q
Diamond-Blackfan syndrome
A
pure red cell aplasia ; normal WCC & plts
presents at 1yr
