Haematology - Aplastic Anaemia Flashcards
What is aplastic anaemia?
- The inability of BM to produce adequate blood cells
- Haemopoeitic stem cell numbers are reduced in BM trephines (hypocellular BM)
- AA typically refers to anaemia, however can have pancytopenia as well
What are some symptoms/signs of aplastic anaemia?
- Relate to each cytopenia
- Typically present with bleeding problems
What is aplastic anaemia associated with?
- Leukaemia
- Paroxysmal nocturnal haemoglobinuria
How is aplastic anaemia classified?
Primary:
- Idiopathic (70%)
- Inherited (10%)
Secondary (10-15%)
- Due to malignant infiltration, radiation, drugs (inc. chemo), viruses or AI causes (e.g. SLE)
What is the management for aplastic anaemia?
Supportive:
- Transfusions
- Abx
- Iron chelation
Drugs:
- Promote marrow recovery = growth factors + oxymethalone
Immunosuppressants:
- Idiopathic AA
Stem cell transplant
What are some inherited aplastic anaemias?
- Fanconi Anaemia
- Dyskeratosis congenita
- Schwachman-Diamond Syndrome
- Diamond-Blackfan Syndrome
What are some features of Fanconi anaemia?
- Autosomal recessive
- Pancytopenia
- Presents at 5-10yrs
- Skeletal abnormalities, renal malformations, microopthalmia, short stature, skin pigmentation
- MDS = ~30%
- AML risk = 10% progression
What are some features of Dyskeratosis Congenita?
- X-linked
- Chromosome instability (Telomere shortening)
- Skin pigmentation, nail dystrophy, oral leukoplakia (triad), BM failure
What are some features of Schwachman-Diamond Syndrome?
- Autosomal recessive
- Primarily neutrophilia +/- others
- Skeletal abnormalities, endocrine + pancreatic dysfunction, hepatic impairment, short stature
- AML risk
What are some features of Diamond-Blackfan Syndrome?
- Pure red-cell aplasia
- Normal WCC + platelets
- Presents at 1yr/neonatal
- Dysmorphology
