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LCK STEP > CHAPTER: Heme Onc > Flashcards

CHAPTER: Heme Onc Flashcards

1
Q

What is the difference between ornithine transcarbamylase def vs UMP synthase defect?

A

Orotic aciduria = UMP synthase problem
- AR
- Kid who presents with megaloblastic anemia that doesn’t respond to B12 (cobal) or B9 (folate) supplements - WHY? because these are the 2 things you think of causing this problem, but the issue generating pyrimidines is actually converting orotic acid -> UMP
Difference = NO hyperammonemia
Treat: + UMP
OTD - orotic acid AND ammonia high in urine

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2
Q

What is Diamond Blackfan anemia

A

Defective erythoid precursor cells -> anemia before 1 yo
Normocytic `anemia - aka low total Hgb but of that, higher percentage HgF (2a, 2g) than expected
Short stature
Craniofacial abnormalities
UE deform = 3 joints in the thumb

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3
Q

Fe def anemia

  1. Where absorbed in GI
  2. Symptoms
A

@ duodenum - unlikely you’d lose your duodenum in surg - instead think GASTRECTOMY b/c less acid ↑Fe 3>2 (less absorbed)
Fatigue + pallor
**PICA, spoon nails

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4
Q

Connect Plummer Vinson syndrome to Fe def anemia

A

PV triad:
Fe def anemia
Esophageal webs -> dysphagia

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5
Q

Disease that produces HgH

A

3 mutated alpha alleles (chr 16)
Tetramers of beta form = HgH
Severe alpha thal anemia (RBC damage)

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6
Q

Disease that produced HgBarts

A

4 mutated alpha alleles (chr 16)
Tetramers of gamma
Fetal hydrops

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7
Q

Patho RBC seen in B thal minor

A

B/B+, ↑2 alpha, 2 delta (Hgb A2)

TARGET CELL

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8
Q

You know that B thal major means no B globin. Therefore, get tetramers of alpha once babies lose gamma globin. SO what does this mean for clinical picture

A

A2A2 causes RBC damage - don’t all make it out of bone marrow
Body sees ANEMIA -> ↑EPO = bone marrow hyperplasoa
1. Crew cut skill XR, large facial bones
2. ↑spleen + liver size (↑risk parvo b19 infection)

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9
Q

Treat B thal major

A

Blood transfusions

SE: hemochromatosis

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10
Q

2 enzymes blocked by lead poisoning

2 RBC findings of lead poisoning

A
  1. ALAD - can’t get precursors out of mitochondria
  2. Ferrocheletase - can’t join PP + Fe to make heme
    Fe builds up in mitochondria (where would be joined) ringed sideroblasts
    Fe overloaded state explains the lab findings:
    ↑ferattin, ↓TIBC, ↑serum Fe ↑% sat
    Can’t breakdown rRNA - basophilic stipling
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11
Q

LEAD of lead poisoning

A

Lead lines - gums + bones (blue-ish)
Encephalopathy (headaches, memory loss)
Ab pain // constipation
Drops - wrist and foot (b/c peripheral demyelin)

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12
Q

3 ways to treat lead poisoning

A

Dimercaprol
EDTA
Succimer to chelate kids

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13
Q

Causes siderblastic anemia

A
  1. ALAS defect - X linked - 1st step PP synthesis
  2. Myelodysplastic syndromes
  3. Alc = mitochondrial poison, mito steps don’t work
  4. B6 def
  5. Isoniazid - why you give B6 with iso to prevent complication
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14
Q

Name the difference in the labs + presentation of B9 vs B12 def causing megaloblastic anemia

A

B9: ↑homocysteine only (THF regen), no neuro
B12: ↑homocysteine + methylmalonic acid (FA breakdown)
Degen
1. Spinocerebellar = ataxia
2. Lat corticospinal
3. Dorsal column = X position + vibration sense
+ parasthesia (pins + needles)

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15
Q

Dx cause of B12 def as malab vs diet insuff with what test?

A

Schilling
Diet: prolonged vegan
Malab: Crohn’s, diphyl latum, gastritis

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16
Q

Disease: megaloblastic anemia w/ orotic acid crystals in urine
Presents as kid w/ growth delay, weakness

A

Orotic aciduria
HUGE clue is orotic acid in urine
UMP synthase problem -> can’t make UMP (pyrimidine)
Supplement: uridine + cytidine (U/T + C = pyrimidines)

17
Q

What are you thinking if the macrocytic anemia is isolated aka not megaloblastic with normally segmented neutrophils

A

It’s not a problem with DNA synthesis
Liver disease
Alcoholism

18
Q

Name what gets absorbed at all 3 parts SI

A

Duodenum - iron - iron def anemia
Jejunum - fat + folate - fat sol vitamin def + megaloblastic macrocytic anemia
Ileum - B12 - megalo macro

19
Q

How does ↑ferroportin cause anemia in chronic disease

A

Binds ferroportin - can’t bring any in @ SI

Anemia starts normo -> micro (b/c ↓Fe)

20
Q

Anemia caused by pyruvate kinase def

A

RBC only tissue affected b/c ONLY use glucose for E (no mito)
PEP -> pyruvate nets 1 ATP in glycolysis
↓ATP -> rigid RBCs = extravas hemolysis = normocytic anemia

21
Q

Which disease has target cells w/ Hgb crystals next to it

A

HbC disease
Crystals look like RBC turned on side - all red
B globin mutation (therefore also chr 11)
Glutamic acid -> lyCine
Target cells -> extravas hemolysis

22
Q

If RBCs don’t have CD 55, what disease will they have?

A

Acquired no GPI to anchor DAG/MIRL (CD 55/59)
Can’t resist complement
Coombs test is negative b/c no Abs
Night time - breathe less - ↑CO2 = resp acidosis = activates complement

23
Q

High risk complication for PNH

A

AML

GPI mutation is in the stem cell - 1 mutation increases likelihood of another

24
Q

What is the sickle cell mutation and why does it make RBCs sickle

A

B chain: valine instead of glutamic acid

Allows hydrophobic interaction so Hgb precipitates -> sickling

25
Q

Howell Jolly bodies + +/- target cells + renal papillary necrosis makes you think of what disease

A

SICKLE CELL
HJ bodies: nuclear remnants (asplenia)
Target cells if progressed to asplenia (repeated infarcts)
Renal pap necrosis b/c ↓O2 to papilla
Blood in urine b/c kidney medulla infarcts

26
Q

Is the change to the spleen in hereditary spherocytosis hyperplasia or hypertrophy?

A

Work HYPERTROPHY

Make more cells to deal with massive extravasc hemolysis

27
Q

Is sickle cell intravasc or extravasc hemolysis

A

EXTRA - the body trying to remove sickled RBC
A sickle crisis intravasc isn’t about bleeding at all -> infarct
↓Haptoglobin tho b/c small amt intravasc hemolysis

28
Q

Whats coombs direct vs indirect

A

DIRECT: RBCs already coated with Ig, bind the Ab vs Ig you add
INDIRECT: add RBC to serum to see if anti-RBC Ab is present

29
Q

Cold vs warm agglutanins - what are they, disease that cause them - what kind of anemia do these diseases have

A

Abs vs RBC - will show + Coombs
Ab + RBC complex goes to spleen = extravasc hemolysis
Cold = IgM = mycoplasma, infectious mono (EBV = + monospot, CMV = - monospot)
Warm = IgG causing chronic anemia in SLE + CLL

30
Q

What is TTP

A

Ab vs ADAMS T12
Can’t breakdown VWF
Causes microangiopathic hemolytic anemia (same idea as HUS)
Abnormal thrombus (drop platelets) -> shistocyte RBCs
Intravasc hemolysis + clotting at same time

31
Q 
Disease:
Painful ab
Port wine urine
Polyneuropathy
Psych changes
Precipitated by drugs (P450 inducers)
A

Acute intermittent porphyria (PP syn => heme syn)
AD X PB deaminase
↑ALA
Treat: glucose + heme

32
Q

Tea colored urine + photosensitivity aka blistering skin rash

A

Porphyria cutanea tarda
AD X URO decarbox - ↓heme
↑porphyrin (just didn’t get all way down to step to make protoP) -> deposits in skin = free rad damage = photosense

33
Q

What is the difference between Glanzmann thrombasthenia + immune TCP

A

Glanz = X GP 2b3a = normal platelet count, quality problem
Immune TCP = Ab vs GP 2b3a - causes destruction of platelets = ↓ platelet count
Both ↑bleeding time

34
Q

Why does PTT rise in VWB disease

A

VWF stabilizes F8 - without, ↓F8 = ↑PTT

35
Q 
Inheritance 
Acute intermit porphyria
Porphyria cutaneous tarda
VWB disease
Hereditary spherocytosis
Pyruvate kinase def
G6PD def
Orotic aciduria
A 
AD
1. AIP
2. P cutaneous tarda
3. VWB disease
4. Spherocytosis (mom + whit)
AR
1. Pyruvate kinase
2. Orotic aciduria
X recessive = G6PD
36
Q

Why do you bridge coumadin patients with heparin

A

Prevent skin necrosis = result of hypercoag state after lose C + S first

37
Q

Name 5 substances secreted by endothelium to stop clotting normally

A 
PGI2 Xs platelet agg
NO 
Heparin like mol = ↑anti thrombin 3
tPA ↑s plasmin
Thrombomodulin ↑protein C
38
Q

RS cell markers

A

2 eyes x CD 15 = 30

B cell origin

LCK STEP (27 decks)

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