121014 aplastic anemia Flashcards
aplastic anemia is inherited or acquired?
can be inherited or acquired
PE findings for Fanconi anemia
short kids
cafe au lait spots
or asymptomatic
aplastic anemia
too few hematopoietic progenitor cells leading to too few RBCs, WBCs, platelets
acquired aplastic anemia needs to be differentiated from inherited bone marrow failure syndrome
acquired severe aplastic anemia can result from what?
viruses
medication
autoimmune
usually don’t find the cause
Camitta criteria for severity of aplastic anemia
for severe aplastic anemia:
peripheral blood needs to have 2 of the 3:
PMN under 500/uL
platelets under 20,000/uL
reticulocytes under 20,000/uL (corrected retic under 1%)
marrow: marked hypocellularity
well recognized inherited marrow failure syndromes?
dyskeratosis congenita
Fanconi anemia
dyskeratosis congenita
telomere disease–accelerated shortening
weird, white, thick toenail
dyskeratosis congenita
Fanconi anemia
DNA repair defect
what treatments are there for aplastic anemia?
matched sibling bone marrow transplant
intensive immune suppression
unrelated donor bone marrow transplant
eltrombopag (thrombopoietin agonist)–to get the “seeds” to work harder
what findings can you see for telomere disease?
hematology-pulm-hepatic diseases in pedigrees
subtle nail, skin, mucous membrane findings
should have what also in your diagnosis for a pt with pancytopenia? ( in addition to differential listed on slide)
HLH
dyskeratosis symptoms
leukoplakia (white patches in oral cavity)
lacy pigmentation
abnormal finger and toe nails
lung and liver disease
what test do you do for Fanconi anemia?
40% of the pts don’t have physical signs so must do diagnoistic/functional DEB test to look for chromosome breakage
if DEB abnormal, do genetic testing to classify
