Myelodysplasic syndrome and aplastic anaemia Flashcards
how does MDS develop and in who
develops slowly over weeeks/mo and in elderly (>60)
what would you see on a blood film in MDS
pelger huet anomaly - bi-lobed neutrophil
neutrophil degranulation
ring sideroblasts - abn nucleated blast surrounded by iron granule ring
what is the IPSS-R and what is it based on
international prognostic scorring system
% BM blasts, karyotype, HB, Plt, neutrophil count
what is the treatment for MDS
survival - allogenic stem cell therapy, intensive chemo
supportive - blood products, antimicrobial therapy, growth factors (EPO, G-CSF)
bio modifiers - immunosupp
what is the mortality of MDS that progresses to aplastic anaemia
1/3 die of inf, 1/3 die of bleeding, 1/3 acute leukemia
what is the incidence pattern of aplastic anameia
bimodal incidence (15-24y and 60+y)
what is needed for a diagnosis of severe aplastic anaemia
2/3 in periph blood: v low reticulocytes (<1%), neutrophils < 0.5, plt <20
+ bone marrow cellularity of 25%
what is the definitive diagnostic inv for aplastic anaemia
bone marrow biopsy - hypocellular + full of fat
what is the treatment for bone marrow F
blood/plt transfusion (leukodepleted, CMV neg, irradiated) - +/- iron chelation
marrow stim drugs, stem cell transplant, immunosupp
how effective is stem cell transplant in aplastic anaemia
allogenic SCT from sibling donor - 70% effective if <40y
much less effective in older
child presents at 5-10y with aplastic anaemia (inf, bleeding, fatigue), short stature, thumb abn, cafe au lait spots, dev delay
fanconi anaemia
what is the inheritance of fanconi anaemia
auto rec x linked
presents with bone marrow F, + triad of skin pigmentation, nail dystrophy, oral leukoplakia
dyskeratosis congenita
