hem/onc Flashcards
acanthocytes?
liver disease
abetalipoproteinemia
basophilic stippling?
lead poisoning
dacryocyte?
= teardrop cell
seen in bone marrow infiltration - e.g. myelofibrosis
Heinz body?
Hb precipitation (after oxidation of Hb-SH to -S-S-) in G6PD
Howell-Jolly bodies?
basophilic nuclear remnants
in functional hyposplenia or asplenia
fatigue, conjunctival pallor, spoon nails?
iron deficiency anemia
block in final step of heme synthesis
** decreased iron, ferritin; increased TIBC (transferrin)
defect in alpha thal?
DELETION of alpha globin genes
hydrops fetalis = Hb Barts = 4 deletions
HbH = 3 allele deletion
defect in beta thal?
point mutations in splice sites and promoter sequences
crew cut on skull XR, chipmunk facies?
beta thal major - homozygous absence of beta chain
extramedullary hematopoiesis –> HSM
increased risk of parvo–> aplastic crisis
increased HbF expression
what enzymes does lead poisoning inhibit?
d-ALA dehydratase, ferrochelatase (first and last steps of heme synthesis)
inhibition of RNA degradation –> basophilic stippling
** increased protoporphyrin
tx of lead poisoning in adults vs kids?
adults: dimercaprol, EDTA
kids: succimer
hereditary cause of sideroblastic anemia?
d-ALA synthase defect
X-linked
causes of sideroblastic anemia?
heritable
myelodysplastic syndromes
alcohol, lead, B6 deficiency, Cu deficiency, INH
findings in sideroblastic anemia?
increased iron, increased ferritin
normal/decreased TIBC
iron-laden Prussian blue-stained mitochondria
increased homocysteine, normal MMA?
folate deficiency
NO neurologic sx
malnutrition, malabsorption, MTX/trimethoprim/phenytoin
increased homocystein and MMA?
B12 deficiency
neurologic sx
vegans, malabsorption, pernicious anemia, Diphyllobothrium, gastrectomy
FTT, developmental delay, megaloblastic anemia refractory to folate/B12 tx?
orotic aciduria - AR
defect in UMP synthase –> can’t convert orotic acid to UMP
tx: UMP (bypass defective enzyme)
** NO hyperammonemia (OTC deficiency has hyperammonemia)
findings of intravascular vs extravascular hemolysis?
intravascular: decreased haptoglobin, increased LDH, schistos, retics; Hb, hemosiderin, urobilinogen in urine
extravascular: spherocytes, increased LDH, unconjugated hyperbili; nothing in urine
mechanism of anemia of chronic dz?
inflammation –> increased hepcidin release from liver
increased binding of ferroportin –> decreased iron transport
decreased release of iron from macrophages –> anemia
** decreased iron, decreased TIBC, increased ferritin
HbC vs HbS?
HbC: glu –> lys
HbS: glu –> val
pyruvate kinase deficiency –> anemia?
AR
decreased ATP –> rigid RBCs
Coombs - hemolytic anemia, pancytopenia, venous thrombosis?
PNH
impaired synthesis of GPI anchor (protects RBCs from complement)
acquired from hematopoietic stem cell
tx: eculizumab = complement inhibitor
- CD55/59 negative RBCs
- increased incidence of ALL/AML
things associated with warm AIHA?
SLE
CLL
alpha methyldopa
** IgG
things associated with cold AIHA?
CLL
Mycoplasma
mono
** IgM
steroid effects on CBC?
neutrophilia: decrease adhesion molecule activation
lymphopenia: causes lymphocyte apoptosis
eosinopenia: sequesters eos in LNs
microcytic anemia, GI and kidney disease, neurologic/mental sx?
lead poisoning
ferrochelatase and d-ALA dehydratase inhibited
accumulation of protoporphyrin and d-ALA
painful abdomen, port wine urine, polyneuropathy, psych disturbances?
AIP
defective porphobilinogen deaminase
accumulation of porphobilinogen, d-ALA, coporphobilinogen
tx: glucose and heme (inhibit ALA synthase)
blistering cutaneous photosensitivity, tea colored urine?
porphyria cutanea tarda
defective uroporphyrinogen decarboxylase
accumulation of uroporphyrin
nausea, vom, gastric bleeding, lethargy, scarring –> GI obstruction?
iron poisoning –> cell death via membrane lipid peroxidation
tx: deferoxamine or deferasirox chelation, dialysis
factors included in PT?
I II V VII X
factors included in PTT?
all except VII and XIII
hemarthroses, easy bruising/bleeding after trauma/surg?
hemophilias
(a = VIII, b = IX, c = XI)
(c = AR, a and b are XLR)
increased PTT, PT normal
tx: desmopressin + factor concentrate
Bernard Soulier?
GpIb defect –> platelet-vWF adhesion defect
large platelets
** no agglutination on ristocetin cofactor assay
Glanzmann?
GpIIb/IIIa defect –> platelet-platelet aggregation defect
no platelet clumping
** agglutination with ristocetin cofactor assay
anti-GPIIa/IIIb antibodies?
ITP
splenic macrophages consume platelet-Ab complexes
megakaryocytes on biopsy
tx: steroids, IVIG
neurologic and renal sx, fever, TCP, MAHA?
TTP - inhib/deficiency of ADAMTS13
decreased degradation of vWF multimers –> increased platelet adhesion –> increased aggregation and thrombosis
schistos and increased LDH
** tx: plasmapheresis, steroids
mild bleeding d/o, increased bleed time and PT, normal PT?
vWD - AD
decreased carrying of FVIII –> increased PTT
decreased platelet-vWF adhesion –> increased bleed time
- decreased aggultination with ristocetin cofactor assay
- tx: desmopressin
minimal increase in PTT after heparin administration?
antithrombin deficiency
inherited or acquired (nephrotic syndrome/renal failure)
MCC of inherited hypercoagulability in whites?
factor V Leiden
mutant factor V, resistant to degradation by protein C
prothrombin gene mutation?
3’ UTR mutation –> increased production –> increased plasma levels, venous clots
what’s in cryoprecipitate?
fibrinogen FVIII FXIII vWF fibronectin
what is a leukemoid rxn?
acute inflammatory response to infx
increased WBC with left shift
increased leukocyte alkaline phosphatase (decreased in CML)
Hodgkin vs Non Hodgkin? (aka good Hodgkin vs bad Hodgkin)
- Hodgkin: localized, Reed-Sternberg, bimodal, EBV, constitutional sx
- NHL: multiple nodes, B cells, peak 20-40yo, HIV/autoimmune, fewer constitutional sx
markers for Reed Sternberg cell?
CD15
CD30
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good prognosis forms of Hodgkin?
strong stromal or lymphocytic rxn against RS cells
lymphocyte rich nodular sclerosing forms
starry sky, sheets of lymphocytes with interspersed macrophages?
EBV t(8;14) - c-myc and heavy IgG EBV assoc Africa endemic form: jaw lesion sporadic: pelvis, abdomen
MC NHL in adults?
diffuse large B cell lymphoma
20% children
painless waxing and waning lymphadenopathy; nodular small cleaved cells?
follicular lymphoma
t(14;18) - bcl-2 and heavy IgG
indolent course
CD5+ lymphoma, older males?
mantle cell lymphoma
t(11;14) - cyclin D1 and heavy IgG
adults with cutaneous lesions, lytic bone lesions, hyperCa; Japan/West Af/Caribbean?
adult T-cell lymphoma
caused by HTLV
skin patches/plaques, atypical CD4+ cells with “cerebriform” nuclei?
mycosis fungoides = cutaneous T cell lymphoma
may progess to Sezary syndrome = T cell leukemia
fried egg plasma cells, large amts of IgG and IgA?
MM
CRAB: hyperCa, renal, anemia, bone lesions (lytic)/back pain
assoc with primary amyloidosis
** M spike, Bence Jones protein, rouleaux, Ig inclusions in plasma cells
hyperviscosity, M spike of IgM?
Waldenstrom Macroglobulinemia
asymptomatic monoclonal plasma cell expansion?
MGUS
develop MM at 1-2% per year
neutrophils with bilobed nuclei?
Pseudo-Pelger-Huet anomaly
seen after chemo
children < 15, Down syndrome assoc, TdT+ ?
ALL
T-cell: mediastinal mass
pre-Bcell: CD10+
may spread to CNS and testes
** t(12;21) has better prognosis
adults > 60, AIHA, smudge cells?
CLL/SLL
CD20+, CD5+
(CLL has increased peripheral blood lymphocytosis vs SLL)
adults, dry BM tap, filamentous cell projections?
hairy cell leukemia
TRAP + staining
tx: cladribine, pentostatin
60-70 yo, auer rods?
AML
assoc with Down syndrome
t(15;17) = M3 - peroxidase + cytoplasmic inclusions, responds to ATRA
** DIC = common presentation
45-85 yo, splenomegaly, metamyelocytes and neutrophils?
CML
t(9;22) = BCR-ABL
blast crises
VERY low LAP
tx: imatinib
child with lytic bone lesions and skin rash; or recurrent otitis media with mastoid mass?
Langerhans cell histiocytosis
do not stimulate T cells with Ag presentation
S100 + (mesodermal origin) and CD1a +
** Birbeck granules = tennis racket/rod shaped, seen on EM
JAK2 mutation+ myeloproliferative disorders?
polycythemia vera
essential thrombocytosis
myelofibrosis
intense itching after hot shoer; sever burning pain and red-blue coloration?
increased hematocrit, assoc with JAK2 mutation
can get episodic blood clots of extremities
essential thrombocytosis?
JAK2
overproduction of abnormal platelets - bleeding, thrombosis
enlarged megakaryocytes in BM
teardrop RBCs, immature myeloid cells, dry tap, splenomegaly?
myelofibrosis
BM obliteration 2/2 increased fibroblast activity in response to monoclonal proliferation