pancytopenia Flashcards
name an inherited syndrome that results in bone marrow failure
fanconi anaemia
signs in fanconis anaemia
short stature, cafe au lait spots, hypogenitalia, endocrinopathies, GI defect, Cv, haem, renal
median age of onset for fanconis
7 years
pathophysiology of fanconis anaemia
unable to connect interstrand cross-links (DNA damage)
what order do macrocytosis, neutropenia marrow failure, leukaemia and thrombocytopenia occur in fanconis
macrosytosis, thrombocytopenia, neutropenia, marrow failure, leukaemia
causes of primary acquired bone marrow failure- intrinsic
idiopathic aplastic anaemia
myelodysplastic syndromes
acute myeloid leukaemia
pathophysiology of apalastic anaemia
autoimmune t-cells agains myeloid progenitors
what does aplasia mean
absence of cells
what mediator cytokines are involved in aplastic anaemia
IFN gamma, TNF alpha
what is seen on film in aplastic anaemis
lots of fat cells, decreased haempoietic cells- diagnosis of exclusion
describe pathophysiology of myelodysplatic disorders
dysplasia-disordered growth
hypercellular marrow
increased apoptosis of progenitor and mature cells (ineffective haemopoiesis)
what are myelodysplastic syndrome at risk of developing into
Acute myeloid leukaemia
causes of secondary bone marrow failure
drug induced - chemo, alcohol, azathioprine, methotrexate, chloramphenicol cause aplasia
b12/folate deficiency- hypercellular unlike drugs
infiltrative - mets lymphoma
viral. - HIV , storage disease
cause of pancytopenia due to increased decstruction
hypersplenism
causes of hypersplenism
portal hypertension
RA
splenic lymphoma
