platelets Flashcards
congenitla chromosome problems that are assoiated with low plt
trisomy 13 18 21 and triploidy
metabolic dz ass with low plt
propioniacidemia, MM acidemia
when does neonatal allo and autoimmune thrombocytopenia present
<72 hours
what do you need to diagnose neonatal alloiummune thrombocytopenia
suspect in plt <50k. Need anti platelet alloaB in mom and document fetomaternal incompatibility.
plt threshold for neonatal alloimmune
below 30k
how to help mom in future pregnancies if neonataal alloimmune thrombocytopenia
IVIG and or daily steroids
treatment neonatal alloimmune thrombocytopenia
if bleeding, IVIG x 2 doses. plt nadir at day 3-4, improve by day 7
disease where maternal antibody impcats baby plt function
NAIT- binds BP2B3a
treatment- low plt in baby with maternal ITP
IVIG if bleeding
who has different metabolism for eltrombopeg
SE asian descent
mechanism- low plt with heparin
immune complex formation
mechanism- low plt with penicillin
hapten - drug binds plt surface
WAS- gene and inheritance
X linked, WAS gene
congenital plt disorder with SMALL plt
WAS
how to diagnose WAS
genes and then you can flow for the surface glycoprotein CD43
2 diagnostic things for MYH9 disorders
gene testing and leukocytes with inclusions (dohle bodies)
MYH9 related disorders- besides low plt, what are the other findings (3)
sensorineural hearing loss, renal failure, cataracts
phenotype- TAR syndrome
low plt, gastritis, cows milk intolerance, cardiac and renal issues . elevated TPO levels
DiGeorge/Velocardiofacial
Syndrom- inheitance, gene
AD, 22q11
phenotype- DiGeorge/Velocardiofacial
Syndrom
cleft palate, cardiac defects, learning disabilities. associated with heterozygous Bernard soulier, low plt
Jacobson syndrome- Paris trousseau - inheritance, gene
AD, 11q23
Jacobson syndrome- Paris trousseau phenotype
congenital heart disease,
developmental delay, facial
dysmorphisms, and short
stature
Large platelet alpha
granules, low plt
what is ANKRD-26 related thrombocytopenia
low plt, high WBC, high RBC, risk of malignancy d
two disorders of inherited platelet function with big size of platelets
glanzmans, Bernard soulier
two plt function disorders with normal plt count
glanzmans, hermansy pudlack
prolonged collagen/epi and prolonged collagen/ADP in PFT– what to think
maybe platelet defect of VWD
glansmanz- problem, inheritance and gene, presentation
deficiency or absence of plt membrane fibrinogen receptor (GP2B/3a). autosomal recessive, ITGA2B or ITGB3, severe mucocutaneous bleeding starting in infancy
how to make the diagnosis- Glanzmans
platelet aggregation, flow cytometry, and geenetics
what do you see on flow with GLanzmans
decreased CD41 and CD61
bernard soulier- problem, inheritance and gene, presentation
abnormal or absent vWF receptor on plt (aka Gp Ib/IX complex aka CD42). autosomal recessive– GP1BA, GP1BB, or GP9utaneous bleeding in infancy, mile to moderate BIG plt
how to make the diagnosis- Bernard soulir
plt aggregation, for cytometry, genetics. Decreaed CD42a and 42b on flow
what does Bernard soulier loo like on plt aggregation studies
lack of response ONLY to ristocetin
what does glanzmans look ike on plt aggregation
lack of response to all agonists except ristcetin
alpha granules are absent in what disease
grey platelet
dense granules are absent in what
storage diseases, hermansky padlock, chediak higashi
dense granule storage pool disorders- what do you see on plt aggregation
Primary aggregation only with ADP with lack of secondary
wave suggesting a failure of granule release or a deficiency of platelet granules`
gray plt syndrome- gene and inheriteance
AR, NBEAL2
2 key associations for gray plt syndrome
myelofibrosis and splenomegaly (in addition to big low plt)
hermansky padlock features
oculocutaneous albinism and nystagmusi
inheritnace- hermansky padlock
autosomal recessive
solid tumor that can cause reactive thrombocytosis
hepatoblastoma
