Bone marrow failure Flashcards
what are the signs of red cell deficiency?
Lethargy, poor concentration, loss of appetite, pale skin, SOB, tachycardia
what are signs of being white cell deficient?
fever, infection
what are signs of being platelet deficient?
easy bruising, easy bleeding, menorrhagia, epistaxis, gum bleeding
what is diamond blackfan anaemia?
inherited single lineage with skeletal abnormalities, cardiac and urogenital malformation, cleft palate and increased risk of leukamia
what is thrombocytopenia with absent raddii?
An inheritred single lineage bone marrow failure. have a low platelet count with no radius bone. associated with lactose intolerance, cardiac and kidney problems
what is fanconi anaemia?
An inheritred pancytopenia. Will have short stature, endocrine problems, skin pigmentation, abnormalities of the arms, eyes, kidneys, ears. increased cancer risk- AML
what is dyskeratosis congenita?
An inherited pancytopenia. seen with skin pigmentation, nail dystrophy and oral leukoplasia with progressive BMF
what is shwachman diamond pearson?
An inherited pancytopenia. mainly affecting neutropenia but all three cell lines are affected. have growth restriction and exocrine pancreatic dysfunction
what is myelodysplasitc syndrome?
When there are abnormal cells in the bone marrow that don’t mature properly
what is paroxysmal nocturnal haemoglobinuria?
An acquired pancytopenia.
There are defective blood cells (especially RBC) they are susceptible to destruction by the complement system. A risk of life threatening clots.
what is aplastic anaemia?
The bone cell is damaged and hypocellular, there aren’t abnormal cells or fibrosis. there is a reduction in at least two of the cell lines.
what are causes of aplastic anaemia?
- radiation, chemotherapy, drug induced, chloramphenicol, hepatitis, EBV,CMV, HIV or idiopathic.
what is the pathogenesis of aplastic anaemia?
Thought to be auto immune, there is progressive shortening of telomere length.
when considering diagnosing aplastic anaemia what conditions is it important to rule out?
paroxysmal nocturnal haemoglobinuria
malignant hypocellular disease
congenital conditions
what leads to paroxysmal nocturnal haemoglobinuria?
PIG A gene mutation leading to no GPI anchored proteins. disregulated complement leads to intravascular haemolyses.
NO leads to vasoconstriction and pain
