FA + MTB 2 Flashcards

1
Q

Hemophilia deficiency and type of inherited

A

Hemophilia A - 8 - XR
Hemophilia B - 9 - XR
Hemophilia C - 11 - AR

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2
Q

Hemophilia A, B, C - treatment

A

A: desmopressin + factor 8 concentrate
B: factor 9 concentrate
C: Factor 11 concentrate

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3
Q

Hemophilia A, B, C - PTT, PT

A

normal PT

increased PTT

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4
Q

Vitamin K deficiency - PT, PTT, BT

A

increased PT, PTT

normal BT

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5
Q

Platelets abnormalities - sign symptoms labs

A
  1. Microhemorrhage (mucus bleeding , epistaxis, petechiae, purpura
  2. Increased bleeding time
  3. Possible decreased platelet count
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6
Q

Bernard-Soulier - PC, BT

A

PC: normal or decreased
BT: increased

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7
Q

Bernard-Soulier diagnosis

A

No agglutination on ristocetin cofactor assay

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8
Q

Bernard-Soulier pathophysiology

A

Deficiency of Gp1b (platelets - vWf adhesion)

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9
Q

Bernard-Soulier findings

A
  1. Defects in platelet plug formation

2. Large platelets (younger)

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10
Q

Glanzmann thrombasthenia - PC,BT

A

PC: -
BT: increased

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11
Q

Glanzmann thrombasthenia pathophysiology

A

GpIIb/IIIa deficiency –> defects in platelet to platelet aggregation

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12
Q

Glanzmann thrombasthenia labs

A

Blood smear shows no platelet climbing

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13
Q

Glanzmann thrombasthenia - agglutination

A

Agglutation with ristocetin

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14
Q

Immune thrombocytopenia pathophysiology

A

Anti GpIIb/IIIa antibodies –> splenic macrophages consumption of platelet antibody complex
Commonly after viral illness

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15
Q

Immune thrombocytopenia labs

A

Increased megakaryocytes on bone bone marrow biopsy

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16
Q

Immune thrombocytopenia treatment

A
  1. Steroids
  2. IV immunoglobulins
  3. splenectomy (for refractory)
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17
Q

Immune thrombocytopenia - PC, BT

A

PC: decreased
BT: increased

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18
Q

Thrombotic thrombocytopenic purpura pathophysiology

A

Inhibition or deficiency of ADAMTS 13 (vwf metalloprotease) –> decreased degradation of vwf multimers –> large vwf multimers –> platelets aggregation and thrombosis

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19
Q

Thrombotic thrombocytopenic purpura labs and symptoms

A

LDH increased
Schistocytes
symptoms: pentad of neurologic and renal symptoms, fever, thrombocytopenia, microangiopathic hemolytic anemia

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20
Q

Thrombotic thrombocytopenic purpura treatment

A
  1. Plasmapheris

2. Steroids

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21
Q

Thrombotic thrombocytopenic purpura - PC, BT

A

PC: decreased
BT: increased

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22
Q

Hemolytic-uremic syndrome - typically seen in/due to

A

children, accompanied by diarrhea and commonly caused by Shiga-toxin-producing E-coli (eg. 157:H7)
in adults does not present with diarrhea
STEC infection is not required

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23
Q

Hemolytic-uremic syndrome - treatment

A

plasmapheresis

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24
Q

Hemolytic-uremic syndrome - symptoms

A

neurologic and renal symptoms, fever, thrombocytopenia, microangiopathic hemolytic anemia

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25
Q

Hemolytic-uremic syndrome - characterised by

A
  1. thrombocytopenia
  2. microangiopathic hemolytic anemia
  3. acute renal failure
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26
Q

Hemolytic-uremic syndrome - PC, BT

A

decreased PC

increased BT

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27
Q

MC inherited bleeding disorder / mode of inheritance

A

Von willebrand disease (but mild)

AD

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28
Q

Von willebrand disease diagnosis / treatment

A

No agglutination with ristocetin

Desmopressin (release vWF stored in endothelium)

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29
Q

Von willebrand disease - PC, BT, PT, PTT

A

PC normal
BT increased
PT normal
PTT increased or normal

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30
Q

DIC - PC, BT, PT, PTT

A

PC decreased
BT increased
PT increased
PTT increased

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31
Q

Causes of DIC - results in

A

STOP Making New Thrombi
Sepsis (gram -), trauma, obstetric complication, acute pancreatitis, malignancy, nephrotic syndrome, transfusion
results in widespread activation of clootting –> deficiency of factors –> bleeding state

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32
Q

hereditary thrombosis syndromes leading to hypercoagulability - types

A
  1. antithrombin def
  2. V leiden
  3. protein S or C def
  4. Prothrombin gene mutation
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33
Q

Prothrombin gene mutation?

A

Mutation in 3 untranslated region –> increased production of prothrombin –> increased plasma levels and VENOUS thrombosis

34
Q

Factor V Leiden - definition and mechanism

A
  • Production of mutant factor V, resistant to pr C
35
Q

MCC of inherited hypercoagubility in Caucasians

A

V Leiden

36
Q

Factor V Leiden - complications

A
  1. DVT
  2. cerebral vein thromboses
  3. recurrent pregnancy loss
37
Q

Protein C or S deficiency pathophysiology

A

Decreased ability to inactivate Va and VIIIa

38
Q

Protein C or S deficiency increases the risk of

A

Thrombotic skin and subcutaneous necrosis with hemorrhage following administration of warfarin

39
Q

Causes of Antithrombin deficiency

A
  1. Inherited deficiency

2. Renal failure/nephrotic syndrome –> loss in urine

40
Q

Antithrombin deficiency pathophysiology

A

Decreased inhibition of factors 2a and 10a

41
Q

Antithrombin deficiency - PTT, PT, Thrombin time

A

no direct effects on the PTT, PT, or thrombin time –> diminishes the increase in PTT following heparin

42
Q

Fresh frozen plasma / prothrombin complex concentrate- dosage effect / clinical use

A

fresh frozen plasma: all coagulation factors + plasma proteins
prothrombin complex concentrate: 2, 7, 9, 10, C, S
increase coagulation factor levels
1. DIC
2. Cirrhosis
3. immediate warfarin reversal

43
Q

Cryoprecipitate - dosage effect

A

contains: 1. fibrinogen 2. fibronectin

3. VWF 4. factor VIII 5. factor XIII

44
Q

Cryoprecipitate - clinical use

A

coagulation factor deficiencies involving fibrinogen and factor VIII

45
Q

blood transfusion risks

A
  1. infection transmission (low)
  2. transfusion reaction
  3. iron overload
  4. hypocalcemia
  5. hyperkalemia
46
Q

Hodgkin - strongly associated with

non-Hodgkin - may be associated with

A
  • EBV
    1. HIV
      1. autoimmune diseases
47
Q

Hodgkin lymphoma - men or women

A

more common in men except for nodular sclerosing type

48
Q

MC Hodgkin lymphoma

A

Nodular sclerosing

49
Q

Hodgkin lymphoma with best prognosis

A

lymphocyte-rich

50
Q

Hodgkin lymphoma - seen in immunocrompomised

A
  1. Mixed cellularity

2. Lymphocyte depleted

51
Q

Non-Hodgkin lymphoma B cells - types

A
  1. Burkitt lymphoma
  2. Diffuse large B-cell lymphoma
  3. Follicular lymphoma
  4. Mantle cell lymphoma
  5. Primary central nervous system lymphoma
  6. Marginal zone lymphoma
52
Q

Burkitt lymphoma - occurs in (age) / associations

A

adolescents or young adults

EBV

53
Q

Burkitt lymphoma - genetics

A

t(8;14) - translocation of c-myc (8) and heavy - chain Ig (14)

54
Q

Burkitt lymphoma - histology

A

starry sky appearance, sheets of lymphocytes with interspersed “tingible body” macrophages

55
Q

Burkitt lymphoma - forms

A
endemic form (africa) --> jaw
sporadic form --> pelvis + abdomen
56
Q

MC type of Non-Hodgkin lymphoma

A

Diffuse large B-cell lymphoma

57
Q

Diffuse large B-cell lymphoma - occurs in (age)

A

usually older adults but 20% in chidren

58
Q

Diffuse large B-cell lymphoma - genetics

A

Bcl-2 / Bcl-6 alternations

59
Q

Follicular lymphoma - occurs in (age) / genetics

A

adults

t(14;18) - translocation of heavy-chain Ig (14) and BCL-2 (18)

60
Q

Follicular lymphoma presents with

A

painless waxing and waning lymphadenopathy (indolent course)

61
Q

Mantle cells lymphoma - occurs in/ markers/ presentation

A

older male
CD5+
patiens typically present with late stage disease (very aggressive)

62
Q

Mantle cells lymphoma - genetics

A

t(11:14) - translocation of cycle D1 (11) and heavy-chain Ig (14)

63
Q

Marginal zone lymphoma - definition

A

neoplastic proliferation of small B cells (cd20) that expands the marginal zone

64
Q

Marginal zone lymphoma - associated with

A

chronic inflammatory states such as Hashimoto, Sjogren, H. Pylori
MALTOMA is marginal zone of mucosal sites

65
Q

1ry CNS lymphoma

A

adults AIDS/EBV

66
Q

Non-Hodgkin lymphoma T cells - types

A
  1. Adults T-cells lymphoma

2. Mycosis fungoides/Sezary syndrome

67
Q

Adults T-cells lymphoma is caused by

A

HTLV (associated with IV drug abuse)

68
Q

Adults T-cells lymphoma - symptoms

A
  1. cutaneous lesions
    2, Lytic bone lesions
  2. Hypercalcemia
69
Q

Mycosis fungoides present with

A

skin patches/plaques (cutaneous T-cell lymphoma)

70
Q

Mycosis fungoides - histology

A

atypical CD4+ cells with cerebriform nuclei

71
Q

Mycosis fungoides may progress to

A

Sezary syndrome (T-cell leukemia)

72
Q

Multiple myeloma is the most common primary tumor ….

A

arising with bone in people older than 40-50

MORE THAN 10% OF BM

73
Q

Multiple myeloma - produces (proportions)

A

large ammount of:

  • IgG (55%)
  • IgA (25%)
  • Ig light chains
74
Q

Multiple myeloma - symptoms/findings

A
  1. hypercalcemia 2. anemia 3. renal involvement 4. bone lytic lesion/back pain 5. infections 6. Rouleaux formation
  2. Bence Jones protein 8. Primary amyloidosis (AL) 9 . M spike on electrophoresis
75
Q

Monoclonal gammopathy of undetermined significance - definition / symptoms / complication

A

monoclonal expansion of plasma cells (bone marrow less than 10%)
asymptomatic
may lead to multiple myeloma (1-2% per year)

76
Q

Waldestrom macroblobulinemia - symptoms.mechanism

A

M spike = IgM –> hyperviscosity syndrome –> 1. blurred vision 2. Raynaud phenomenon

77
Q

Multiple Myeloma - cytokines

A

high serum Il-6

78
Q

Myelodysplastic syndromes - mechanism

A

stem cell disorders involving ineffective hematopoiesis

–> defects in cell maturation of all nonlymphoid lineages

79
Q

Myelodysplastic syndromes is caused by

A
  1. de novo mutations

2. environmental exposure (radiation, benzene, chemotherapy)

80
Q

Myelodysplastic syndromes - complications

A

may progress to AML

81
Q

Pseudo-Pelger-Huet anomaly

A

neutrophils with bilobed nuclei typically seen after chemotherapy