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Heme/Genetics > Myeloproliferative Disorders > Flashcards

Myeloproliferative Disorders Flashcards

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1
Q

Polycythemia vera

  • how get
  • caused by what
  • causes what
  • disorder of what?
A
  • acquired
  • due to gene mutation
  • causes overproduction of all three hematopoietic cell lines, mostly RBCs
  • bone marrow disorder
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2
Q

Polycythemia vera causes abnormal what

A

hemostasis

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3
Q

Polycythemia vera morbidity and mortality are related to what

A
  • hyper viscosity and platelet dysfunction
  • cause thrombosis development
  • not common but possible for malignant transformation
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4
Q

Polycythemia vera

  • ages
  • m vs. f
A
  • 50-75 yo

- M > F

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5
Q

Polycythemia vera risk factors

A
  • more prevalent in Jews of Eastern Europe descent

- Familial history is rare: not like hemophilia can track through family tree

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6
Q

Polycythemia vera complications

A
  • Budd-chiari syndrome (thrombosis around liver = liver damage)
  • mesenteric artery thrombosis
  • MI
  • CVA
  • venous thromboembolism and PE
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7
Q

Polycythemia vera S&S

A
  • pts may be asymptomatic (usually find on CBC)
  • expanded blood volume/hyperviscosity
  • Erythromelalgia (burning of hands/feet - bright red hands)
  • Epistaxis
  • Generalized pruritus after warm shower/bath due to histamine release
  • spontaneous bruising/bleeding
  • peptic ulcer disease
  • bone pain (ribs and sternum)
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8
Q

Polycythemia vera physical findings

A
  • HTN
  • facial plethora (flushing)
  • splenomegaly
  • bone tenderness
  • skin excoriations from sig pruritus
  • engorged retinal veins on fundoycopic exam
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9
Q

Polycythemia vera

- differential

A
  • secondary polycythemias from hypoxia, smoking, hemoglobinopathy, EPO secreting cyst of tumor
  • spurious polycythemia from contracted plasma volume or diuretic use
  • other myeloproliferative disorders like cancer
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10
Q

Why does smoking cause elevated RBC

A
  • almost always due to smoking. RBC can’t carry O2 as well so bump up RBC #
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11
Q

spurious polycythemia

A

temporary or false state of polycythemia due to extreme dehydration - low volume. Low volume makes it look like high RBCs…

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12
Q

Polycythemia vera lab findings

A
  • abnormal CBC
  • low EPO level
  • gene testing
  • peripheral smear normal
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13
Q

Polycythemia vera imaging

A
  • renal US
  • CT/US of spleen
  • look at vessels for early thrombosis
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14
Q

Additional Polycythemia vera testing (not lab finding or imaging)

A

bone marrow biopsy - look for hyper cellular or panhyperplasia of all elements

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15
Q

Criteria to dx Polycythemia vera

A
  1. All three major
    OR
  2. 2 major + minor
Major:
1. hemoglobin >16.5 men or >16 women OR 
hematocrit >49% men >48% women OR
red cell mass >25% above mean predicted value
2. abnormal bone marrow biopsy
3. Gene mutation

Minor:
- serum EPO level below normal

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16
Q

Polycythemia vera abnormal lab findings not required for dx

A
  1. thrombocytosis
  2. leukocytosis
  3. Fe deficiency
  4. Strikingly elevated B12
  5. hyperuricemia due to overproduction of uric acid
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17
Q

what is erythrocytosis

A
  • aka secondary polycythemia or secondary erythrocytosis - not the same as polycythemia vera
  • An increase in the number of circulating red cells above the gender-specific normal level
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18
Q

causes of secondary erythrocytosis (not Polycythemia vera)

A
  1. sleep apnea
  2. emphysema
  3. smoking
  4. renal artery stenosis (thinks is anemic bc not enough blood flow to kidney. Raises blood pressure bc kidney thinks hypovolemic state)
  5. carbon monoxide poisoning
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19
Q

Polycythemia vera treatment

A
  1. Phlebotomy - give blood!
  2. Myelosuppresive therapy (hydroxyurea, ruxolitinib, pegylated alfa-2 interferon
  3. ASA
  4. Other (avoid dehydration, antihistamines for pruritus, uric acid reduction)
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20
Q

Essential thrombocytosis

- def

A

A rare chronic blood condition characterised by the overproduction of platelets by megakaryocytes in the bone marrow.

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21
Q

Essential thrombocytosis

  • cause
  • RBCs
  • how common
  • associated with what
  • women vs. men
  • age of onset
A
  • etiology unknown
  • normal RBC mass
  • uncommon
  • associated with gene mutation
  • women > men
  • 50-60 yo
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22
Q

Essential thrombocytosis

  • long term survival
  • cause of morbidity
A
  • long term survival good

- thrombosis is a major source of morbidity

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23
Q

Essential thrombocytosis

- clinical findings

A
  • elevated platelets >2,000,000/mcL
  • thrombosis in unusual sites (mesenteric vein, hepatic vein, etc.)
  • erythromelalgia (red & painful palms)
  • mucosal bleeding
  • splenomegaly
  • large platelets on peripheral smear
  • Bone marrow biopsy : increased megakaryocytic
  • check for Philadelphia chromosome to ro CML
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24
Q

Essential thrombocytosis

- treatment

A
  • reduce platelets to <500,000 to reduce risk of thrombosis
  • Meds (hydroxyurea, anagrelide, ASA)
  • stop smoking
  • plateletpheresis to rapidly reduce platelet count
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25
Q 
Primary Myelofibrosis (PMF)
- define
A
  • chronic fibrosis of bone marrow
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26
Q 
Primary Myelofibrosis (PMF)
- clinical features
A
  • splenomegaly
  • anemia
  • genetic abnormality
  • malaise, weight loss, fever
  • splenic infarction
  • hepatomegaly
  • 10% transform to aggressive leukemia
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27
Q 
Primary Myelofibrosis (PMF)
- what does dx require
A

bone marrow biopsy

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28
Q

Conditions associated with secondary myelofibrosis

A
  • polycythemia vera
  • Essential thrombocythemia
  • Osteomyelitis
  • TB
  • Toxins
  • Lupus
  • systemic scerlosis
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29
Q

Primary Myelofibrosis (PMF) treatment

A
  • corticosteroids
  • blood xfusion for anemia
  • thalidomide to increase platelets
  • Ruxolitinib to reduce spleen size
  • bone marrow transplant is only curative treatment (younger pts)
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30
Q

List the 3 “other” bleeding disorders

A
  1. idiopathic thrombocytopenia purpura (ITP)
  2. Thrombotic Thrombocytopenia Purpura (TTP)
  3. Disseminated intravascular coagulation (DIC)
31
Q

Idiopathic thrombocytopenia purpura (ITP)

  • aka
  • how common
  • definition
A
  • immune thrombocytopenia
  • one of most common autoimmune disorders
  • acquired, isolated thrombocytopenia in otherwise healthy adults
32
Q

idiopathic thrombocytopenia purpura (ITP)

- caused by waht

A
  • destruction and/or impaired thrombopoiesis due to autoantibodies directed at platelets
  • antigens target GPIIb/IIIa complex which are then sequestered by the spleen
33
Q

Two types of idiopathic thrombocytopenia purpura (ITP)

A

Acute

Chronic

34
Q

Acute idiopathic thrombocytopenia purpura (ITP)

  • population
  • m vs. f
  • often follows what
  • onset
  • resolution
A
  • most common in children (3-5 yo)
  • M=F
  • self-limiting form
  • often follows viral infection or vaccination
  • onset within 1 week
  • spontaneous resolution occurs within 2 months in 83% of pts
35
Q

Acute idiopathic thrombocytopenia purpura (ITP)

  • bleeding
  • platelet counts
A
  • bleeding mild unless count <20,000
  • platelets
  • 20,000 to 50,000 petechiae and ecchymoses after mild trauma
  • <10,000 generalized petechiae, ecchymoses, mucosal bleeding
  • <2,000 widespread ecchymosis, hemorrhagic bullae, retinal hemorrhage
36
Q

Acute idiopathic thrombocytopenia purpura (ITP)

- PE findings

A
  • petechiae and ecchymoses
  • lymphadenopathy or splenomegaly suggest other secondary causes of thrombocytopenia
  • peripheral smear: decreased # platelets & giant platelets
37
Q

Chronic idiopathic thrombocytopenia purpura (ITP)

  • common population
  • how common
  • female vs. male
A
  • most common in adults (20-40 yo)
  • pretty uncommon
  • F > M
38
Q

Chronic idiopathic thrombocytopenia purpura (ITP)

  • onset
  • bleeding
  • remission
  • how mild/severe
A
  • insidious onset, NO hx of prior infection
  • bleeding depends on platelet count
  • spontaneous remission after first year
  • usually mild with minimal to no bleeding (platelet count >30,000)
39
Q

Chronic idiopathic thrombocytopenia purpura (ITP)

- how to dx

A
  • must exclude other causes of thrombocytopenia (TTP or spurious thrombocytopenia)
  • Smear usually shows giant platelets
  • bone marrow examination shows megakaryocytes
40
Q

Other causes of thrombocytopenia when working up idiopathic thrombocytopenia purpura (ITP)

A
  • Autoimmune hemolytic anemia
  • common variable immune deficiency
  • drugs (TONS)
  • alcohol
  • infections
  • side effect of vaccination
  • bone marrow transplant
  • CT disease
41
Q

Differential Dx for idiopathic thrombocytopenia purpura (ITP) in adults

A
  • acute leukemia
  • TTP
  • hemolytic uremic syndrome
  • Factitious - platelet clumping on peripheral smear
  • sepsis
  • AND SO MANY MORE
42
Q

idiopathic thrombocytopenia purpura (ITP) S&S

A
  • often asymptomatic, found incidentally on CBC
  • petechiae, purpura, mucosal bleeding
  • post-traumatic bleeding occurs at counts of 40,000 to 60,000
  • platelet < 30,000 - bruising, epistaxis, menorrhagia, gingival bleeding
  • platelet <20,000 - spontaneous bleeding
43
Q

idiopathic thrombocytopenia purpura (ITP) physical examination

A
  • ecchymosis, petechiae, epistaxis, gum bleeding
  • hemorrhagic bullae on buccal mucosa: acute and severe thrombocytopenia
  • absence of splenomegaly (make sure to document)
44
Q

idiopathic thrombocytopenia purpura (ITP) Dx

A
  • CBC: low platelets <100,000 but other parts normal
  • Peripheral smear: decreased number of platelets, giant platelets
  • PT/PTT is normal (unlike hemophilias)
  • Rarely perform bone marrow biopsy (will see megakaryocytes)
45
Q

Spurious thrombocytopenia

A
  • false thrombocytopenia
  • CBC shows reduce count
  • smear shows plenty of platelets but they are clumped together
46
Q

idiopathic thrombocytopenia purpura (ITP)

- pediatric treatment

A
  1. observation (only treat if count is low and pt is bleeding)
  2. IVIG - quick response $$
  3. Corticosteroids - slower response
  4. Anti-D Immunoglobulin- single dose $$
    * avoid ASA and contact sports
47
Q

idiopathic thrombocytopenia purpura (ITP)

- pediatric treatment if becomes chronic

A
  1. Splenectomy (rare!!)
  2. Rituximab
  3. dexamethasone
  4. consider thrombopoeitin receptor agonists
48
Q

idiopathic thrombocytopenia purpura (ITP)

adult treatment

A

newly dx with platelet <30,000

  1. oral corticosteriods
  2. IV steroid
  3. IVIG
  4. Anti-D IG
  5. splenectomy (much more common than in children)
49
Q

idiopathic thrombocytopenia purpura (ITP)

adult second line treatment

A

chronic ITP after splenectomy

  1. thrombopoeitin receptor agonists
  2. immunosuppressive therapy
50
Q

idiopathic thrombocytopenia purpura (ITP) emergency treatment

A
  • IV corticosteroids
  • IVIG
  • Platelet transfusion

consider:

  • recombinant factor VIIa
  • antifibrinolytic agents, aminocaproic acids, transexamic acid
  • emergent splenectomy
51
Q

Thrombotic Thrombocytopenia Purpura (TTP) 5 sx

A
  1. Microangiopathic hemolytic anemia
    AND
  2. Thrombocytopenia

+/-

  1. neuro symptoms
  2. renal dysfunction
  3. Fever

*very sick patients

52
Q

if patient presents with hemolytic anemia and thrombocytopenia assume what and do what

A

assume TTP

treat as though TTP regardless of lack of 3-5 of the pentad

53
Q

Thrombotic Thrombocytopenia Purpura (TTP)

  • predom age
  • predom sex
  • predom race
A

18-49 yo
F > M
african americans

54
Q

Thrombotic Thrombocytopenia Purpura (TTP)

pathophysiology

A
  • cause is unknown
  • unusually large von Willebrand factor
  • VW keeps linking and the enzyme that trims the VW chains doesn’t trim so the chains are long
55
Q

Thrombotic Thrombocytopenia Purpura (TTP)

- risk factors

A
  • pregnancy
  • oral contraceptives
  • HIV/AIDS
  • Autoimmune disease (antiphospholipid antibody syndrome, systemic lupus erythematous), cancer
  • Drug toxicity
56
Q

Thrombotic Thrombocytopenia Purpura (TTP)

how tell apart from HUS (hemolytic uremic syndrome)

A

TPP presents with minimal renal involvement and may have neuro abnormalities

HUS presents with renal involvement, rarely neuro, usually after an infection with a toxin producing bacteria

*pts might present with both prominent renal and neuro, makes dx difficult…

57
Q

Thrombotic Thrombocytopenia Purpura (TTP)

Sx

A
  • onset acute/subacute
  • petechiae, purpura, easy bruising
  • altered mental status, confusion, paresthesias, HA
  • fatigue
  • fever
  • jaundice/pallor
  • visual change dt retinal hemorrhage
  • related to end-organ ischemia
58
Q

Thrombotic Thrombocytopenia Purpura (TTP)

PE findings

A
  • fever
  • mental status change, confusion, focal deficits
  • retinal hemorrhage, scleral icterus, epistaxis
  • abdomen tenderness
  • jaundice, petechiae, purpura, ecchymoses
59
Q

Thrombotic Thrombocytopenia Purpura (TTP)

Differential

A

ITP
DIC

also

  • HUS
  • malignant HTN
  • preg-related preeclampsia/eclampsia
  • etc.
60
Q

Thrombotic Thrombocytopenia Purpura (TTP)

lab findings pertinent positives

A

CBC:

  • dec. hgb
  • dec. platelets
  • normal WBC
  • inc reticulocytes

Peripheral smear

  • schistocytes
  • helmet cells, RBC fragments
  • nucleated RBCs
  • polychromasia (reticulocytosis)

LDH elevated

Haptoglobin decreased

61
Q

Thrombotic Thrombocytopenia Purpura (TTP)

lab findings pertinent negatives

A

Normal test:

PT
PTT
Fibrinogen
D-dimer
Direct Coombs
62
Q

Thrombotic Thrombocytopenia Purpura (TTP)

Treatment

A
  • prompt treatment or 90% mortality
  • total plasma exchange with FFP
  • fresh frozen plasma infusion until total plasma exchange can start
  • glucocorticoids
  • Rituximab
63
Q

What is enough evidence to start Thrombotic Thrombocytopenia Purpura (TTP) treatment

A

presence of hemolytic anemia and thrombocytopenia

64
Q

Disseminated Intravascular Coagulation (DIC)

- def

A
  • Uncontrolled/systemic activation of coagulation
  • creation and deposition of fibrin
  • microvascular thrombi in various organs
  • multiple organ dysfunction syndrome
  • Thrombocytopenia with decreased fibrinogen levels
  • damage to microvasculature
  • accelerated fibrinolysis may cause severe bleeding
  • simultaneous thrombosis and bleeding!
65
Q

Disseminated Intravascular Coagulation (DIC)

- from waht

A

complication or effect of other illness

- not a specific illness itself

66
Q

Disseminated Intravascular Coagulation (DIC)

- two pathways

A
  1. systemic inflammatory response: activation of cytokine network = activation of coagulation
  2. release or exposure of pro-coagulant material into bloodstream
  • can be both!!
67
Q

Disseminated Intravascular Coagulation (DIC)

- underlying disease/illness that can cause

A
  • sepsis and severe infection most common
  • trauma
  • obstetric complications
  • malignancies
  • envenomations (snake bite)
  • many more :(
68
Q

Disseminated Intravascular Coagulation (DIC)

- 4 mechanisms that cause

A
  1. tissue factor-mediated thrombin generation
  2. dysfunction of natural anticoagulation mechanism
  3. depression of fibrinolytic system
  4. inflammatory activation
  • out of control cascade activation
  • checks and balances not working
  • use up all factors so can’t clot
69
Q

Disseminated Intravascular Coagulation (DIC)

- Sx

A
  • sx of underlying condition
  • bleeding from everywhere (3 unrelated sites is very good sign DIC)
  • petechiae and ecchymosis
  • sx of thrombosis in large vessels (DVT)
70
Q

Disseminated Intravascular Coagulation (DIC)

- bleeding manifestations

A
  • petechiae, purpura, ecchymosis, oozing from venipuncture sites and wounds
  • hematuria
  • neuro bleeding
  • epistaxis, hemoptysis
  • intestinal bleeding
71
Q

Disseminated Intravascular Coagulation (DIC)

- microvascular thrombosis manifestino

A
  • skin infarction, digital gangrene
  • mucosal ulcerations, bowel infarction
  • and more
72
Q

Disseminated Intravascular Coagulation (DIC)

Lab findings

A
  • CBC:
    - dec. platelets
    - dec. hemoglobin
  • PT, PTT increased
  • Fibrinogen decreased
  • Fibrin degradation product increased
  • D-dimer positive

*Lab values change rapidly, repeat 6-8 hours and follow closely

73
Q

Disseminated Intravascular Coagulation (DIC)

Treatment

A
  • Admit inpatient/ICU for respiratory support, vital signs/labs monitoring, treat hypovolemia, assess/doc extent hemorrhage and thrombosis
  • Treat underlying problem (abx, sx)
  • admin basic hemostatic procedures when needed
  • Transfusions
  • medications
    • anticoagulants are controversial (heparin)
    • replacement coagulation or fibrinolysis inhibitors

Heme/Genetics (15 decks)

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