Pancytopaenia Flashcards
Define pancytopaenia:
A deficiency of blood cells from ALL lineages
doesn’t tend to include lymphocytes
What are the two main causes of pancytopenia?
Reduced production
OR
Increased destruction
What are the main causes of decreased production?
Bone marrow failure:
Inherited (rare)
Acquired: primary (stem cell defect) or secondary
What are the clinical features of Fanconi’s Anaemia?
Short stature Skin pigment abnormalities e.g. cafe au lait spots Radial ray abnormalities Hypogenitalia Endocrinopathies GI defects CV, Renal and Haem defects
What is an example of an inherited bone marrow failure syndrome?
Fanconi’s Anaemia
What is the haematological abnormality that causes Fanconi’s?
They are unable to correct inter-strand cross links (DNA damage)
List some examples of acquired Primary bone marrow failures:
idiopathic aplastic anaemia
Myelodysplastic syndromes
Acute leukaemia
What is the pathogenesis in aplastic anaemia?
Auto-reactive T cells releasing IFN and TNF against the long and short term stem cells, the
How does acute leukaemia lead to pancytopaenia?
Proliferation of ABNORMAL cells (blasts) from the stem cells, which fail to differentiate/ mature
therefore normal stem cells cannot develop
What is another name for pancytopaenia when there is clear decrease in the haemopoietic tissue of the bone marrow?
Aplastic anaemia
What is the lifetime risk of developing leukemia in a patient with fanconi’s?
52% by age 40
What is the risk of bone marrow failure occurring in patient with Fanconi’s?
84% by 20 y/o
What is the common age of onset of pancytopaenia in children with Fanconi’s?
5-10 y/o
median = 7
Define dysplasia:
Disordered growth or development of cells
List some causes of secondary bone marrow failure:
- Drug induced e.g. chemo
- B12 / folate deficiency
- Infiltrative e.g. non haem malignancy
- Viral
- Storage disorders