bone marrow failure syndromes

bone marrow failure aka aplastic anaemia
1. rare
2. reduction/absence of all 3 main lineages in bone marrow
  1. -> peripheral blood pancytopenia
3. inherited or acquired
  1. acquired
    1. viruses (esp hepatitis)
    2. drugs
      1. sulphonamides
      2. chemotherapy
    3. toxins
      1. benzene
      2. glue
    4. idiopathic
4. partial or complete
  1. may start as failure of a single lineage but progress to develop all 3 cell lines
clinical presentation
1. anaemia
  1. due to reduced RBC nos
2. infection
  1. due to reduced WBC nos (esp neutrophils)
3. bruising & bleeding
  1. due to thrombocytopenia
inherited aplastic anaemia
1. all rare disorders
  1. Fanconi anaemia
    1. commonest inherited form of aplastic anaemia
    2. autosomal recessive inheritance
    3. most kids have congenital anomalies
      1. short stature
      2. abnormal radii & thumbs
      3. renal malformations
      4. microphthalmia
      5. pigmented skin lesions
    4. px
      1. 1 or more anomalies
      2. signs of bone marrow failure
        aren't usually obv til 5-6 years old
        neonates w/ Fanconi anaemia
        normal blood count
        diag by showing increased chromosomal breakage of peripheral blood lymphocytes
        this test can be used to ID affected family members or prenatal diag
    5. affected kids @ high risk of death from
      1. bone marrow failure
      2. transformation to acute leukaemia
    6. recommended Rx
      1. bone marrow transplantation using normal donor marrow from an unaffected sibling or matched unrelated marrow donor
Shwachman-Diamond syndrome
1. rare
2. autosomal recessive inheritance
3. bone marrow failure +
  1. signs of pancreatic exocrine failure
  2. signs of skeletal abnormalities
4. caused by mutations in SBDS gene
  1. can be used for IDing unusual cases or prenatal diag
5. commonest haematological problems
  1. isolated neutropenia
  2. mild pancytopenia
6. increased risk of transforming to acute leukaemia

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bone marrow failure syndromes

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	Created by v.djabatey about 10 years ago