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*USMLE* > Hematology > Flashcards

Hematology Flashcards

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1
Q

Burkitt Lymphoma

genetic abnormality

main features - endemic form vs. non

biopsy

A

t(8;14) puts c-myc with Ig promoter

jaw tumor + LAP in Africans due to EBV

(non-endemic can be abdominal tumor w/ rapid doubling + spontaneous tumor lysis)

biopsy shows “starry sky” of macrophages + apoptotic bodies among many lymphocytes; malig B-lymphos have vacuolated cytoplasm

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2
Q

Follicular Lymphoma

translocation
biopsy
presentation

A

t(14;18) puts Ig promoter with BCL-2

composed of small-cleaved “centrocytes” with larger uncleaved “centroblasts”; low mag biopsy is highly packed B-cell follicles without normal nodal architecture

pts are middle-age with painless, fluctuating LAP or abd. pain with abdominal masses

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3
Q

Eosinophilic (M4Eo subtype) AML

A

inv(16)

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4
Q

CML

translocation
special histo

chronic stable presentation

A

t(9;22) BCR-ABL fusion protein

NO AUER RODS bc cells are more mature!
many different precursor cell types (not just blasts)

present with non-specific symptoms in chronic stable phase

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5
Q

APML

translocation?
presentation (2)?
tx?

A

t(15;17) puts RARA with PML; see Auer rods in promyelocytes

presents with DIC +/- fever via low WBCs

tx with ATRA (induces PML/RARA degradation + stimulates maturation)

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6
Q

mantle cell lymphoma

translocation

A

t(11;14) puts cyclin D1 near Ig heavy chain; cyclin D1 promotes G1 to S transition

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7
Q

Diffuse Large B-cell lymphoma

epidemiology
presentation

A

1 NHL

rapid growing nodal (neck, abd, mediastinum) or extranodal symptomatic mass; commonly in tonsils or GI tract

systemic B symptoms common

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8
Q

Acute Lymphoblastic Leukemia

epidemiology
5 s/s

A

1 kid leukemia; composed of pre-B (CD19/10) or pre-Ts (CD1/2/5)

LAP, HSmegaly, fever, bleeding + bone pain

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9
Q

Hairy Cell Leukemia

in whom? 2 s/s and one absent sx

histo + special staining positivity

A

splenomegaly + pancytopenia in older men; no LAP!

hairy cells and TRAP+

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10
Q

Mycosis fungoides

cell type? histo feature?

derma description?

A

cutaneous T-cell lymphoma

CD4+ cells infiltrate dermis/epidermis > Pautrier microabscesses

plaques on trunk/butt look like eczema/psoriasis; may see generalized erythema / erythroderma

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11
Q

LAP score

what is it? what does it indicate? other ways (1 main, 3 minor) to differentiate the 2 conditions LAP score differentiates

A

Leukocyte Alkaline Phosphatase

normal or increased in LEUKEMOID REACTION

decreased in CML

Dohle bodies - basophilic PERIPHERAL granules in neutrophils of leukemoid reaction (rER ribosomes), or pt with burns or myelodysplasia

Other signs of leukemoid reaction:

Increased bands (left shift)
Toxic granulation - cytoplasmic granules in neutros
Cytoplasmic vacuoles

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12
Q

Leukemoid Reaction

what is it? differential?

A

benign leukocytosis (>50,000) due to severe infection, hemorrhage, solid tumor or acute hemolysis

marrow is hypercellular to normal; see INCREASED BANDS and early mature neutrophil precursors (myelocytes, etc.)

high LAP score
Dohle bodies - peripheral basophilic rER in neutros
Cytoplasmic vacuoles - in neutros
Toxic granulation - in neutros

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13
Q

Hereditary Spherocytosis

inheritance + mutations?

smear?

manifestations (3)?

A

AD mutation of spectrin/ankyrin

some (not all… unless homozygous I guess) RBCs ~2/3 diameter of normal and lack central pallor

hemolytic anemia, jaundice and splenomegaly

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14
Q

Hereditary Spherocytosis

Labs? (3)
Complications + associations? (2)
Tx?

A

Labs - high MCHC, negative coombs, increased osmotic fragility

Complications - pigmented gallstones, aplastic crises via parvovirus B19

tx is splenectomy

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15
Q

Inherited Hypercoagulability

2 MCCs

A

Leiden Factor V - #1 MCC, Va is protein C resistant (no change to aPTT on addition of activated protein C)

Prothrombin mutations

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16
Q

Autoimmune Hypercoagulability

MCC

main serum finding + 3 clinical findings

2 labs

A

antiphospholipid antibody syndrome

lupus anticoagulant / anticardiolipin Abs plus 1+ of following:
venous thromboembolism
arterial thromboembolism
FREQUENT FETAL LOSS

prolonged aPTT + thrombocytopenia

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17
Q

Lead Poisoning

epidem?
s/s? (6 general, 1 special)
smear?
biochem? 2 enzymes

A

kids eat paint chips; adults are miners/industrial workers (eg, battery manufacturing) who inhale lead

adults - weakness, abd. pain + constipation

if severe - HA, cognitive sx, peripheral neuropathy

signs - blue “LEAD LINES” at gingivodental junction

smear - basophilic stippling (rRNA) with hypochromic microcytic anemia

d-ALA dehydratase and ferrochelatase inhibition > poor iron incorporation into heme > low Hb

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18
Q

Polycythemia Vera

mutation + result?

labs? (3)

complications, s/s? (1 GI, 1 MSK, 1 vascular, 1 abdominal, 2 derma)

A

JAK2 mutation (V617F; Val > Phe)

makes stem cells more sensitive to growth factors (EPO, TPO)

labs - increased RBC mass, plasma volume, low EPO (may have high platelets, WBCs)

may have:

thrombosis (viscous blood)
peptic ulcers + pruritus (basophils > histamine)
gout (high turnover)

red (“ruddy”) face
splenomegaly

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19
Q

Main signs for multiple myeloma (4)

others? (3)

A 
elderly patient with...
osteolytic lesions
hypercalcemia
anemia
acute kidney injury
(CRAB = calcium, renal, anemia, bone)

also…
constipation (via high Ca)
fatigue
recurrent infections

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20
Q

What is “myeloma kidney”?

pathogenesis?

labs? (3)

A

light chain cast nephropathy - intact Igs can’t pass glomerulus, but light chains (kappa + lambda) can > combine with Tamm-Horsfall proteins to form obstructive casts > tubular rupture

DIPSTICK negative for protein (for albumin only)
spot / 24-hr TURBIDIMETRY positive for protein
urine ELECTROPHORESIS shows light chains

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21
Q

Sometimes dipstick is positive for protein in myeloma patient. Why?

A

Monoclonal Immunoglobulin Deposition Disease

intact Ig or heavy/light chains deposit in glomerulus and cause NEPHROTIC SYNDROME; then albumin and intact Igs will be found in urine

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22
Q

AML

cell type + features (2)?

epidem?

WHO crit?

A

myeloblast cells; large nucleus, little cytoplasm, AUER RODS with PEROXIDASE positivity

mostly >65 pts with signs of pancytopenia

WHO - at least 20% blasts in marrow (peripheral WBCs median 15,000 at dx)

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23
Q

large CD19 and CD10+ cells in periphery in kid

dx?

A

precursor B-ALL

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24
Q

large CD1, CD2, and CD5+ cells in periphery in kid

dx?

A

precursor T-ALL

variable CD1a expression
CDs 2, 3, 4, 5, 7 and 8 are expressed (T cell markers)

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25
Mature B Cell Leukemia other names? cells? CDs?
chronic lymphocytic leukemia -or- small lymphocytic leukemia small, round, monomorphic B cells in blood, marrow + nodes CD19 and CD5 (a T cell marker!)
26
Primary Myelofibrosis primary pathogenesis? result?
clonal MEGAKARYOCYTES secrete TGF-BETA > stimulates fibroblasts in marrow to produce collagen > marrow fibrosis HSCs migrate to liver + spleen > EXTRAMEDULLARY HEMATOPOIESIS
27
Primary Myelofibrosis manifestations (5)? think systemic, GI, hematologic and biopsy
1. severe fatigue 2. hepatomegaly with MASSIVE SPLENOMEGALY (can compress stomach and cause GI sx) 3. at least 1 CYTOPENIA 4. "Teardrop cells" aka dacrocytes (rbc damage in spleen or fibrotic marrow) 5. DRY TAP on marrow aspiration; must biopsy marrow
28
Primary Myelofibrosis risks? histo?
risks - chemical exposure (toluene, benzene) histo - hypocellular marrow and significant fibrosis with atypical megakaryocytes (biopsy only... tap usually dry)
29
Smear findings in beta thalassemia 2 main things; 5 extra
1. hypochromic microcytic anemia (MCV <80) 2. increased central pallor "anisopoikilocytosis" varied shape and size target cells, teardrop cells, nucleated precursors basophilic stippling
30
what happens with alpha chains in beta thalassemia? consequences (2)?
unpaired alpha chains precipitate in RBCs damage membrane > precursor death > ineffective erythropoiesis lysis of circulating cells > extravascular hemolysis
31
Pathogenesis of bone lesions in MM
IL-1 (activates osteoclasts) and IL-6 from neoplastic cells leads to resorption and OSTEOPENIA (pain, fractures and "punched out" lesions on xray hypercalcemia > fatigue, confusion, constipation)
32
Hyperimmunoglobulinemia in MM causes what in blood (2)? labs (2)?
rouleaux on peripheral smear increased ESR M protein in serum M spike on electrophoresis
33
accumulation of light chains throughout body in MM name? microscopy? organs affected (4)?
AL amyloidosis eosinophilic extracellular deposits on light micro CONGO stain > "apple green" birefringence mainly KIDNEY, also heart, tongue and nervous system
34
Reed-Sternberg cells are derived from what?
germinal center B cells
35
Thrombotic Thrombocytopenic Purpura pathophys
low ADAMTS13 (either acquired auto-Ab or hereditary) uncleaved vWF > platelet trapping > microvascular thrombosis and microangiopathic hemolytic anemia
36
Thrombotic Thrombocytopenic Purpura clinical features
microangiopathic HEMOLYSIS with SCHISTOCYTES THROMBOCYTOPENIA with normal PT/aPTT sometimes: renal failure neurologic sx (ex: lacunar infarct with focal pure sensory loss) FEVER
37
TTP treatment (3)
plasma exchange steroids rituximab
38
Idiopathic Aplastic Anemia 2 general pathomechanisms 3 classes of causes with examples
either direct TOXIC insult or T-CELL RESPONSE against precursors 1. Toxins - gasoline, tobacco smoke 2. Drugs - CHEMo, CARbamazepine 3. Viruses - hepatitis, EBV (gas goes in CARS; tobacco smoke contains CHEMicals)
39
Inherited cause of aplastic anemia? musculoskeletal changes? (2) increases risk of? (2)
Fanconi anemia short stature + no thumbs risk of malignancy (MDS and AML)
40
Sideroblastic Anemia MCCs (5 things w/ examples)
``` alcohol abuse copper or B6 deficiency meds - isoniazid, chloramphenicol, linezolid myelodysplastic syndrome X-linked form - d-ALA synthase defic. ```
41
mechanism of isoniazid or B6 defic. sideroblastic anemia
INH inhibits PYRIDOXINE PHOSPHOKINASE, normally converts pyridoxine to to pyr-5-phosphate pyr-5-P is a d-ALA SYNTHASE cofactor in heme synth
42
sideroblastic anemia ``` peripheral smear (2) stain ```
- microcytic hypochromic anemia - ringed sideroblasts - iron granules accumulate around nucleus Prussian blue stain
43
reticulocyte appearance on peripheral smear
slightly larger and BLUER with WRIGHT-GIEMSA than RBC blue due to retention of RIBOSOMAL RNA in a reticular network in the cytoplasm
44
Howell Jolly bodies what are they?
DNA remnants in reticulocytes seen in splenectomy or low spleen function (normally removed by spleen)
45
What are Pappenheimer bodies?
ferritin aggregates in RBCs / reticulocytes seen in sideroblastic anemia
46
Hematological signs of CML | general and more specific, 4 points overall
- elevated WBCs with increased precursor forms - decreased LAP score - "myelocytic bulge" - predominance of myelocytes as opposed to more mature metamyelocytes - absolute BASOPHILIA and/or EOSINOPHILIA
47
Pure Red Cell Aplasia ``` what causes it? 2 causes (1 has 2 disease examples) ``` what 2 tests can help determine cause
inhibition of erythrocytic precursors by IgG AUTOANTIBODIES or CYTOTOXIC T CELLS 1. immune dysfunction - THYMOMA (IgG auto-Abs; thymoma removal sometimes cures aplasia) and LYMPHOCYTIC LEUKEMIA (self-reactive CD8+) 2. PARVO B19 can also cause it all prca patients should have CHEST CT for thymoma and ANTI-B19 IgM serum test
48
Hodgkin lymphoma epidemiology (2 groups)? main presenting sx?
BIMODAL AGE dist (peak in 20s and 60s) - NONTENDER lymphadenopathy (or incidental LAP on routine chest cxr) - B symptoms - fever, night sweat, weight loss
49
Hodgkin lymphoma dx (smear? cbc? definitive?)
peripheral smear + cbc usually normal NODE BIOPSY is definitive dx - REED-STERNBERG CELLS with lymphos, histiocytes and eosinophils
50
Differential: vW disease vs. hemophilia vs. ITP
vWD - skin + mucosa bleeding (epistaxis, heavy period, gingival, GI) since childhood; labs show only increased bleeding time + aPTT (factor VIII) hemophilia - DEEPER bleeding into joints/muscles, GI + urinary tract; labs show high aPTT (intrinsic path) ITP - EPISODIC bleeding that is MUCOCUTANEOUS with purpura, petechia + epistaxis; labs show low PLTs and high bleeding time
51
Hemophilia A or B lab characteristics?
prolonged aPTT only (normal PT, BT and PLTs) deficiency factor VIII or IX (intrinsic path)
52
vW disease lab characteristics?
prolonged aPTT and bleeding time (normal PT and PLTs; aPTT can be normal) aggregation studies can be normal platelet can't bind collagen properly due to impaired bridging via vWF (Gp1b), plus vWF doesnt protect factor VIII
53
DIC lab characteristics
prolonged BT, PT, aPTT and low PLTs consumptive coagulopathy uses up all factors + platelets
54
How does chronic kidney disease affect hemostasis? labs?
Uremia-induced platelet dysfunction (toxins impair platelet agg + adhesion) Prolonged BT normal PT, aPTT and PLTs
55
Heparin use lab characteristics
prolonged aPTT only (low plts only if HIT) normal PT, BT, and PLTs only affects thrombin and factor X
56
Warfarin use lab characteristics
prolonged PT, minimal prolongation of aPTT normal BT and PLTs affects factors II, VII, IX and X
57
Factor XIII deficiency factor XIII function? s/s? labs?
a rare AR disease with DELAYED, recurrent bleeds after trauma, surgery factor XIII is a transglutaminase that cross-links fibrin polymers to stabilize them; it's a later process in clot stabilization so effects are delayed normal bleeding time, PT and aPTT
58
What are dysfibrinogenemias? labs?
inherited abnormalities in fibrinogen can cause excessive bleeding -OR- thrombophilia alter THROMBIN TIME (TT), as well as PT and aPTT bleeding time is normal
59
Idiopathic Thrombocytopenic Purpura: pathophys, labs, s/s
GpIIb/IIIa auto-Ab thrombocytopenia (only peripheral smear abnormality); NO fever; PT, aPTT normal spontaneous bleeding uncommon (unless PLT <10,000)
60
Thrombotic Thrombocytopenic Purpura: pathophys, labs, s/s
ADAMTS12 auto-Ab causes activation of platelets by long vWF polymers don't bleed usually; fibrinogen, PT and aPTT normal
61
TTP-HUS pentad
1. fever 2. neurological sx - progressive lethargy 3. renal failure 4. anemia 5. thrombocytopenia in setting of antecedent GI illness
62
Beta Thalassemia Minor what kind of anemia? what kind of cells on smear? what kind of hemoglobin is high?
microcytic hypochromic increased HbA2 (alpha2delta2) and sometimes high HbF poikilocytes including SPHEROCYTES and TARGET CELLS but pt is ASYMPTOMATIC bc this is "minor" variant
63
Beta Thalassemia generally what do the mutations affect?
mutations affecting transcription, processing and translation of ***mRNA*** for beta-globin usually aberrant splicing or premature chain termination during translation sometimes pt mutation prevent RNA polymerase from binding promoter
64
How does beta thalassemia result in hemolysis?
insoluble ALPHA CHAIN TETRAMERS precipitate in RBCs and cause membrane instability
65
Most common cause of extramedullary hematopoiesis?
severe chronic hemolytic anemia as in beta thalassemia, etc.
66
what non-hematological complication is common in patients with extramedullary hematopoiesis?
Skeletal abnormalities (expanding mass of progenitor cells in marrow thins cortex + impairs growth) - Pathologic fractures - Maxillary overgrowth - Frontal bossing
67
JAK2 what is it and what does it do? mutations cause what? (3)
a CYTOPLASMIC (non-receptor) TYR KINASE activates the STAT pathway ("signal transducers and activators of transcription") Polycythemia vera Essential thrombocytosis Primary myelofibrosis
68
JAK2 inhibitor for tx of primary myelofibrosis
ruxolitinib
69
Peripheral smear finding in CHRONIC LYMPHOCYTIC LEUKEMIA
smudge cells
70
Daily prophylaxis with WHAT ANTIBIOTIC can prevent INFECTION WITH WHAT in a sickle cell pt?
penicillin prevents Strep pneumo (and other gram+, but encapsulated are most important in sickle cell)
71
Causes of sideroblastic anemia 1 genetic (enzyme?) 1 acquired 6 reversible
X-linked ALA synthase defect Myelodysplastic Syndrome 1. Alcohol - MCC 2. B6 defic. (pyridoxine) 3. Pb poisoning 4. Chloramphenicol 5. Isoniazid 6. Cu deficiency
72
Tx of sideroblastic anemia
B6 cofactor for ALA synthase
73
Skeletal / x-ray findings in BETA THALASSEMIA MAJOR Other finding related to hematopoietic issues?
1. "crew cut" on skull xray due to MARROW EXPANSION 2. chipmunk facies extramed. hpoiesis > HSM
74
When does BETA THALASSEMIA MAJOR present and why?
after abt 6 months of life, because HbF (alpha2gamma2) is high until then, then is replaced by HbA2 (alpha2delta2)
75
Alpha Thalassemia genetics? certain kind of genetic change specific to one population + certain kind specific to another
α-globin DELETIONS lead to decreased α-globin synth the CIS deletions (on same chromosome) occur in ASIANS the TRANS deletions (on diff. chroms.) occur in AFRICANS
76
What is the disease and number of globin genes deleted in an asymptomatic carrier for alpha thalassemia?
α-thalassemia "minima" no anemia, just a silent carrier (αα / α--) only one α-globin gene deleted
77
What is the deletion situation in a person with alpha thalassemia minor? And clinical sx?
either TRANS (α--/α--) or CIS (αα/-- --) | mild microcytic hypochromic cis deletion can be worse for offspring
78
What is Hemoglobin H disease? genetics? clinical situation?
(-- --/α --) 3 α globin genes deleted excess beta-globin forms beta4 Hb called Hb H moderate to severe microcytic hypochromic
79
What is Hemoglobin Barts disease? genetics? clinical situation?
(-- --/-- --) ALL four globin genes deleted excess gamma-globin forms gamma4 Hb HYDROPS FETALIS, incompat with life
80
what is the treatment for beta thalassemia major? what can this cause?
frequent transfusions can cause secondary hemochromatosis
81
General difference in bleeding tendencies in... coagulopathy vs. platelet defects
coagulopathy - DEEP TISSUE bleeding (joints, muscle, subcutis) platelet - MUCOCUTANEOUS bleeding (epistaxis, petechiae)
82
Transfusion of PACKED RBCs tx what 2 conditions? raise what 2 parameters?
tx acute blood loss and severe anemia raise Hb and O2 carrying capacity
83
In platelet transfusion... how much does each "unit" of plts raise PLT levels approximately?
~ 5000/mm3/unit
84
3 conditions in which FFP or prothrombin complex concentrate is used
1. DIC 2. Cirrhosis 3. immediate anticoagulation reversal (ie rat poison or warfarin OD)
85
Difference between FFP vs. Prothrombin complex concentrate
FFP - all coag factors and plasma proteins PCC - factors II, VII, IX and X plus proteins C/S
86
What does CRYOPRECIPITATE contain and what does it treat?
fibrinogen (factor I) factor VIII factor XIII vWF tx deficiencies of fibrinogen and factor VIII (incl. vW disease)
87
What are the 5 risks of blood transfusion? | think of what blood contains, what blood product containers contain, and blood aging for hints to 3
1. Infection (low risk) 2. Transfusion reactions (low with proper type) 3. Secondary hemochromatosis via Fe overload 4. HYPOCALCEMIA - via citrate chelation 5. HYPERKALEMIA - via rbc lysis in old blood
88
Mutations in CHRONIC MYELOMONOCYTIC LEUKEMIA | note: myeloMONOCYTIC not just myelogenous
PDGF-R mutations
89
Anemia in chronic liver disease Type? Peripheral smear? Severity?
usually NORMO- or slightly MACROCYTIC and MILD (Hb of 10-11 g/dL) TARGET cells in spear (microcytic only in <25% of chronic liver disease anemias)
90
If a patient has microcytic hypochromic anemia, but no uterine bleeding, dark stools or visible stool blood... what is the most likely cause of anemia?
still IDA despite the lack of noticed blood still need to do an occult blood test, check ferritin, maybe colonoscopy (especially if older) (key here is that the lack of blood seen does NOT rule out some GI blood loss somewhere)
91
Polycythemia vera dx and tx
- low EPO and cytogenetics (JAK2 mut.) | - phlebotomy (target Hct <45%)
92
2 tumors OTHER THAN RENAL that can secrete EPO?
cerebellar hemangioblastoma uterine fibroids (leiomyoma)
93
Difference in peripheral smear of someone with generally increased serum proteins vs. specifically COLD AGGLUTININS?
general serum protein increase > ROULEAUX (stacked RBCs) cold agglutinins > CLUMPED rbcs
94
Diff btwn multiple myeloma and Waldenstrom macroglobulinemia
MM - either IgG or IgA increased; plus CRAB sx Waldenstrom - IgM is increased causing a HYPERVISCOSITY syndrome (blurred vision, Raynaud) (remember... MM already has Ms... Waldenstrom needs Ms)

*USMLE* (28 decks)

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