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Anemia Flashcards

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1
Q

5 physiologic factors in Hb level

A

age
sex (M higher) / puberty (higher w testosterone)
altitude (higher)
genetics (African less)

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2
Q

Anemia DDx by micro/normomacro-cytic

A

Microcytic: thal, chr dis, IDA, lead, sideroblastic
Normocytic: blood loss, suppression/BMF, hemolysis, splenic sequestration, CKD
Macrocytic: megaloblastic, BMFS, drugs, hypothyroid, liver, T21

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3
Q

define MCV, RDW, MCHC and role in thal vs IDA

A

MCV: mean corpuscular volume; diameter of cells
RDW: red cell distribution width; variability in cell volume
MCHC: mean corpuscular Hb concentration; cell density

MCV low in both, MCHC low in both
RDW high in IDA

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4
Q

reasons for false high/low Hb on automated counter

A

high: dehydration, lipemia, leukocytosis, nRBC, prolonged tourniquet

low: clotting, overfilled tube, dilutional, agglutinin, hemolysis

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5
Q

5 steps of iron metabolism

A

ferrireductase Fe3+ to 2+
DMT1 transports across duodenal epithelium
Ferroportin exports across membrane
Hephaestin Fe 2+ to Fe 3+
Transferrin bound for transport in blood

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6
Q

iron deficiency ddx

A

diet: excessive cows milk, low fe (vegan)
blood loss: GI, menorrhagia
malabsorption: Celiac, IBD, gastric bypass, antacid therapy, tannins, metal (Co, Pb)
Poor stores: pregnancy, infancy/prem, inflammation
Inadequate presentation: atransferrinemia, anti-transferrin receptor Ab
IRIDA mutation (TMPRSS6)

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7
Q

IV Fe indications

A

CKD
PO intolerance/ineffective
need rapid response
malabsorption
IRIDA

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8
Q

Fe supplementation recovery timeline

A

1-2w: retic
1mo: Hb
1-3mo: MCV/RDW
3mo: ferritin

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9
Q

Physiologic Hb nadir etiology

A

decline of g chains
drop in EPO due to higher O2 concentrations

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10
Q

High iron foods

A

Meat: beef, liver, fish
legumes: chick peas, black beans, lentils
leafy greens: spinach, broccoli
tofu
fortified infant formula/cereals

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11
Q

IDA smear findings

A

hypochromic microcytic anemia
anisopoikilocytosis
reticulocytopenia
thrombocytosis
pencil cells

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12
Q

IDA non-heme S/S

A

impaired immunity
neurocognitive
nail changes
pica
glossitis
restless leg

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13
Q

hemochromatosis genetics

A

aut rec

homeostatic iron regulator (HFE) most common mutation (C282Y > H63D)
Juvenile: hepcidin (HAMP), hemojuvelin (HJV)
Adult: transferrin receptor 2 (TFR2), ferroportin (FPN1)

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14
Q

B12 deficiency DDx

A

diet: vegan/veg
Pernicious anemia (IF deficiency)
competition: tapeworm, blind intestinal loop
Decreased receptors: ileal resection, IBD, Celiac, H pylori
Imerslung-Grasbeck Syndrome (aut rec B12 malabsorption)

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15
Q

Imerslung-Grasbeck Syndrome

A

aut rec
B12 deficiency
Lack of IF binding

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16
Q

Intravascular vs extravascular hemolysis DDx

A

intravascular:
- enzymopathy: G6PD, PKD
- Cold AIHA: PCH, CAD
- MAHA: TMA, DIC, HUS/TTP, artificial heart valve, Kasabach Merritt

Extravascular:
- warm AIHA
- HDN
- membranopathy: HS, HE, Rh null, xerocytosis
- Hbopathies: SCD, thal, unstable Hb
- toxin, infection, burn
- Wilson

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17
Q

hemolytic anemia smear findings

A

normocytic anemia
reticulocytosis
schistocytes
basophilic stippling
Howell-Jolly bodies
Heinz bodies

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18
Q

Heinz bodies: define and DDx

A

precipitated denatured Hb

G6PD
unstable Hb
hemolysis
oxidant drugs

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19
Q

Howell-Jolly Body: define and DDx

A

nuclear remnant - larger than pappenheimer

thal
hypo/asplenia
hemolysis
megaloblastic anemia

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20
Q

Basophilic stippling: define and DDx

A

ribosomal/residual RNA remnants

thal
SCD
lead
sideroblastic
megaloblastic

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21
Q

Pappenheimer: define and DDx

A

1-2 irregular small granules of iron deposits

thal
sideroblastic
megaloblastic
hemolysis
post splenectomy

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22
Q

HS lab findings

A

spherocytes
elevated RDW, MCHC
extravascular hemolysis
reticulocytosis

EMA flow cytometry
elevated osmotic fragility

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23
Q

HS genetics

A

vertical interactions

aut dom: ankyrin, Band 3, b spectrin
aut rec: a spectrin, protein 4.2

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24
Q

HE genetics

A

horizontal interactions
aut dom
Spectrin or band 4.1

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25
what is pyropoikilocytosis
subtype of HE aut rec spectrin abnormalities smear with bizarre shapes
26
Hereditary Stomatocytosis: DDx and subtypes
DDx: artifact, hereditary, ethanol, Rh null, Tangier, drugs Overhydrated - aut dom stomatin or band 7.2 mutations - low MCHC, positive osmotic fragility Xerocytosis - aut dom PIEZO1 or KCNN4 mutations - high MCHC, decreased osmotic fragility
27
G6PD deficiency pathophys and genetics
G6PD generates NADPH, which protects against oxidative injury X linked
28
G6PD deficiency triggers
fava beans drugs: Vit C, sulpha, dapsone, methylene blue, rasburicase, nitrofurantoin infection
29
describe direct and indirect Coombs
DAT: anti-human IgG binds to RBC-bound IgG --> ?agglutination indirect: donor RBC and reagant added to serum --> ?agglutination
30
what is positive in warm vs cold AIHA
Warm: IgG +- C3 ; 70% bispecific CAD: C3 (IgM or anti-I/i) PCH: C3 (IgG, anti-P) -> Donath Landsteiner test
31
Microangiopathic anemia ddx
DIC HUS TTP TMA Kasabach-Merrit mechanical heart valve Inf, burn, drugs
32
warm AIHA etiol and tx
Primary (50%) Secondary - immune: evans, SLE, thyroiditis, hepatitis, Graves, T1DM - immunodeficiency - ALPS - malig, infection, drugs steroid, transfusions - 2nd line: IVIG, ritux, splenectomy
33
CAD etiol and tx
Mycoplasma (anti-I) EBV (anti-i) supportive plasmapheresis
34
which are extravascular vs intravascular? PCH CAD PNH warm AIHA
Extravascular: warm AIHA and CAD Intravascular: PCH and PNH
35
PCH etiol and tx
anti-P Donath Landsteiner positive supportive
36
PNH etiol, dx, tx
clonal X linked PIG-A gene (PG1 protein) CD 55/59 negative Eculizumab HSCT
37
Polycythemia ddx
relative: dehydration, smoking Primary: - EPO-R activating mutation (aut dom) - PCV (JAK2 mutation) - congenital methemoglobinemia - high O2 affinity Hb Secondary (elevated EPO) - hypoxia: altitude, OSA, obesity - renal artery stenosis - tumors: RCC, HCC, pheo, etc - exogenous EPO: steroid, NO - toxin: CO, smoking - neonatal: IDM, eclampsia, IUGR, T21, TTTS
38
Polycythemia Tx
observation phlebotomy symptomatic -> ASA JAK2 mutation -> HU
39
spherocyte DDx
HS AIHA MAHA thermal injury liver disease clostridial sepsis HDFN hypersplenism severe hypophosphatemia
40
TTP pentad
fever MAHA thrombocytopenia renal dysfunction neurologic changes
41
TTP pathophysiology and tx
lack of ADAMTS13 ultralarge VWF multimers present fibrin deposition and plt trapping microangiopathy pulse MP ritux FFP plasmapheresis x 5d course caplacizumab
42
Upshaw-Schulman Syndrome
congenital ADAMTS13 deficiency, aut rec
43
high suspicion of FA, chromosome breakage negative. Next step
skin fibroblast culture
44
neonatal hyperbili DDx
HDFN (Rh > ABO) Sepsis dehydration G6PD HS Crigler-Najjar
45
main iron absorption regulator
hepcidin created in liver decreases absorption by inhibiting ferroportin from transporting Fe out of duodenal epithelium and macrophages
46
What is IRIDA
Iron refractory IDA TMPRSS6 mutation (aut rec) hepcidin upregulation (i.e. decreased absorption)
47
megaloblastic anemia BM findings
nuclear-cytoplasmic dys-synchrony in erythroid precursors hypercellular giant metamyelocytes
48
difference in presentation b/w B12 and folate deficiencies
B12: neuro findings - posterior column degeneration: proprioceptive, fine motor, ataxia, psychomotor retardation, seizures, depression, psychosis
49
Lab differentiation of B12 and folate deficiencies
Homocysteine elevation in both MMA elevation in B12 only
50
Evan's Syndrome dx, tx
any combo of ITP, AIHA, autoimmune neutropenia with chronic remitting/relapsing course CS +- IVIG 2nd line: ritux, CSA, MMF, VCR, danazol, splenectomy
51
warm AIHA tx
steroid pulse --> pred 1-2 mg/kg/d x 2-4w --> taper over 3-12mo 2nd line: IVIG (40% response), ritux (90% CR), splenectomy (2/3 partial response)
52
Associated anemia: - anti-P - anti-I - anti-i
anti-P: PCH anti-I: Mycoplasma CAD anti-i: EBV CAD
53
define Donath Landsteiner
DL Ab: IgG biphasic hemolysin that binds RBC and fixes complement at low temp, but only causes hemolysis near 37C
54
PCH tx
self-limiting supportive: avoid cold
55
CAD tx
self-limiting supportive: avoid cold plasmapheresis if severe
56
HDFN prevention
RhIg to Rh neg mothers given at 28w, delivery, post invasive procedure
57
horizontal vs vertical membranopathy
horizontal: HE (E lines are horizontal) vertical: HS (S goes from top to bottom)
58
SE Asian Ovalocytosis epi, pathophys, ix
Melanesia, Malaysia, Indonesia, Philippines aut dom band 3 deletion theta cells sens/spec 94/99% low EMA
59
examples of unstable Hb
Hb Koln: high O2 affinity Hb Zurich: increased CO affinity Hb Poole: unstable g chain Hb Hammersmith: unstable b chain with low O2 affinity
60
TTP px
mortality 80% w/o therapy mortality 10-20% relapse rate 20-30%
61
HUS triad
MAHA thrombocytopenia renal dysfunction
62
HUS Ix
intravascular hemolysis with schistocytes mild-mod thrombocytopenia normal INR, PTT, fibrinogen ADAMTS13 normal

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