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Hematology 2 PPT > Qualitative Platelet Disorders > Flashcards

Qualitative Platelet Disorders Flashcards

1
Q

Group of disorders affecting the structure or function of platelets

A

Qualitative Platelet Disorders

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2
Q

Patients with this disorder usually will have an adequate number of platelets but poor “quality” of clotting.

A

Qualitative Platelet Disorders

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3
Q

Qualitative Platelet Disorders

Vascular Intima/Plasma

A

● Damaged Endothelium
● Exposed Collagen
● VWF

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4
Q

Platelet Adhesion
Platelets

A

● GPIb Complex
● GPIa/IIa , GPV

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5
Q

Bernard-Soulier Syndrome other name

A

Giant platelet syndrome

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6
Q

Inherited disorder in which the GP Ib/IX/V complex is missing from the platelet surface or exhibits abnormal function.

A

Bernard-Soulier Syndrome (Giant platelet syndrome)

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7
Q

Inability to bind to VWF accounts for the inability of platelets to adhere to exposed sub endothelium.

A

Bernard-Soulier Syndrome (Giant platelet syndrome)

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8
Q

Similar manifestation to Von Willebrand Disease.

A

Bernard-Soulier Syndrome (Giant platelet syndrome)

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9
Q

REMINDER ‼️‼️‼️‼️

BS Syndrome cannot be corrected by addition of normal plasma or Cryoprecipitate.

A
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10
Q

The GPIb-Complex receptor.
● Consist of the

A

GPIbα , GPIbβ , GPIX , GPV

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11
Q

GPIbα , GPIbβ , GPIX , GPV.
● These proteins are present in a ratio

A

2:2:2:1

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12
Q

The most frequent forms of BSS involves defects in

A

GPIbα

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13
Q

Antibody to GP Ib/V can cause

A

pseudo-BSS

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14
Q

Bernard-Soulier Syndrome (Giant platelet syndrome)
Variants

A

1.Normal surface expression of GPIb complex but impaired functionality.
2. Mutations that affect binding domains that cause poor binding.
3.Antibody to GP Ib/V can cause pseudo-BSS, causes a non- functional complex

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15
Q

Bernard-Soulier Syndrome
Laboratory features

A

Giant Platelets

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16
Q

appear larger compared to normal platelets on PBS due to a proposed tendency to spread into thin films on contact with glass.

A

Bernard-Soulier Syndrome

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17
Q

BSS
platelets are unusually large and fewer in number than usual (_________________)

A

Macrothrombocytopenia

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18
Q

Bernard-Soulier Syndrome
Laboratory features : Platelet aggregometry.

A

Macrothrombocytopenia and prolonged bleeding time.

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19
Q

Bernard-Soulier Syndrome (Giant platelet syndrome)
Treatment: treatment of choice

A

Platelet transfusion (must be leukoreduced to
reduce alloimmunization.)

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20
Q

Bernard-Soulier Syndrome (Giant platelet syndrome

REMINDER‼️‼️‼️‼️‼️

Antiplatelet therapy should be avoided

A
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21
Q

Bernard-Soulier Syndrome (Giant platelet syndrome)
Treatment: useful for mucosal bleeding.

A

Antifibrinolytic therapy

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22
Q

PLATELET AGGREGATION

PLASMA OR PLATELET GRANULES

A

● Ionized calcium
● Fibrinogen

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23
Q

PLATELET AGGREGATION

PLATELETS

A

● GPIIb/IIIa receptors
● ATP/ ADP

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24
Q

Glanzmann Thrombasthenia seen most frequently in populations______________________

A

high degree of consanguinity.

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25
Q

Deficiency or abnormality of the GPIIb/IIIa complex.

A

Glanzmann Thrombasthenia

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26
Q

GPIIb/IIIa complex complex is responsible for binding __________________

A

fibrinogen
vWF
fibronectin
other adhesive ligands.

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27
Q

Binding of GPIIb/IIIa complex to ____________ mediates the success of platelet aggregation.

A

Fibrinogen

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28
Q

0-5% of normal GPIIb/IIIa complex

A

Glanzmann Thrombasthenia
TYPE 1

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29
Q

10-20% of normal GPIIb/IIIa

A

Glanzmann Thrombasthenia
TYPE 2

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30
Q

Type of GT that is Less affected by abnormal clot
retraction

A

Glanzmann Thrombasthenia
TYPE 2

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31
Q

Glanzmann Thrombasthenia
Laboratory features:

A

● Normal platelet count and morphology.
● Abnormal aggregation. Prolonged bleeding time.

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32
Q

Glanzmann Thrombasthenia
Clinical Manifestations: Bleeding of all types;

A

Epistaxis , Ecchymosis, Hemarthrosis,
Subcutaneous hematoma, Menorrhagia and
GI / UT hemorrhage.

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33
Q

Glanzmann Thrombasthenia
Treatment: highly recommended

A

Platelet transfusion (leukoreduced)

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34
Q

Glanzmann Thrombasthenia
Treatment:

REMINDER‼️‼️‼️‼️‼️
Anticoagulant and antiplatelet agents should be avoided.

A
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35
Q

Glanzmann Thrombasthenia
Treatment: for menorrhagia

A

Hormonal therapy (Norethindrone acetate)

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36
Q

Release of Remaining Platelet granules to facilitate secondary wave of aggregation.

A

Platelet secretion

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37
Q

The most common of the hereditary defects are:

A

storage pool
release reaction defects

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38
Q

Disorders of Platelet Secretion

Platelet count is usually

A

Normal

39
Q

Disorders of Platelet Secretion

Manifestations

A

● mucocutaneous hemorrhage
● hematuria
● epistaxis
● spontaneous bleeding.

40
Q

Platelet Storage Pool Diseases
Dense Granule Deficiency

A
  1. Hermansky-Pudlak syndrome
  2. Chediak- Higashi syndrome
  3. Wiskott-ALdrich syndrome
  4. Thrombocytopenia-absent
    radius (TAR) syndrome
41
Q

Platelet Storage Pool Diseases

Alpha Granule Deficiency

A

Gray platelet syndrome

42
Q

Hermansky- Pudlak Syndrome mutation

A

Autosomal recessive
Chromosome 19

43
Q

Tyrosinase positive oculocutaneous albinism

A

Hermansky- Pudlak Syndrome

44
Q

Lysosomal dysfunctions

A

Hermansky- Pudlak Syndrome

45
Q

Ceroid-like depositions in the RES

A

Hermansky- Pudlak Syndrome

46
Q

Profound platelet dense granule deficiency.

A

Hermansky- Pudlak Syndrome

47
Q

Hermansky- Pudlak Syndrome

‼️‼️‼️REMINDER‼️‼️‼️‼️
● Severe bleeding is RARE.
● But lethal hemorrhages have been reported.
● Accounts for 16% of deaths in affected patients.

A
48
Q

Hermansky- Pudlak Syndrome

For extensive surgery and prolonged bleeding

A

administer Packed Red cells and platelets.

49
Q

Hermansky- Pudlak Syndrome hallmark

A

Swiss-cheese platelets

50
Q

consists of marked dilation and tortuosity of the surface-connecting tubular system

A

Swiss-cheese platelets

51
Q

Chediak-Higashi Syndrome mutation

A

● Autosomal recessive disorder
● Mutations in Chromosome 1

52
Q

Partial oculocutaneous albinism

A

Chediak-Higashi Syndrome

53
Q

Frequent pyogenic bacterial infections (severe immunology defects).

A

Chediak-Higashi Syndrome

54
Q

Giant lysosomal granules

A

Chediak-Higashi Syndrome

55
Q

Platelet dense granule deficiency (leads to hemorrhage).

A

Chediak-Higashi Syndrome

56
Q

Chediak-Higashi Syndrome

● Lymphocytic proliferation in the

A

liver, spleen and marrow.

57
Q

Macrophage accumulation in tissues.

A

Chediak-Higashi Syndrome

58
Q

Severe pancytopenia

A

Chediak-Higashi Syndrome

59
Q

Usually results to death in early age

A

Chediak-Higashi Syndrome

60
Q

Chediak-Higashi Syndrome
REMINDER‼️‼️

Bleeding episodes may vary from mild to moderate but worsens as the platelet count decreases.

A
61
Q

Wiskott-Aldrich syndrome disease

A

X-linked disease

62
Q

Wiskott-Aldrich syndrome

● Affects primarily

A

Male

63
Q

Wiskott-Aldrich syndrome mutation

A

Mutations in the WAS gene on the short arm
of the X chromosome. (Xp11.23

64
Q

Wiskott-Aldrich syndrome

WAS gene encodes for the

A

WASp gene

65
Q

WASp gene that
is found exclusively in

A

hematopoietic cells, including lymphocytes.

66
Q

WASp gene plays a crucial role

A

actin cytoskeleton remodeling.

67
Q

Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
Classic form of WAS

A

Eczema-thrombocytopenia immunodeficiency syndrome

68
Q

Wiskott-Aldrich syndrome
Eczema-thrombocytopenia immunodeficiency syndrome characterized by

A

● Immune dysfunction (susceptibility to bacterial, viral and fungal infections).
● Microthrombocytopenia
● Severe Eczema.
● Bleeding episodes (mod-severe).

69
Q

Wiskott-Aldrich syndrome
Platelet characteristics in WAS

A
  1. Decreased platelet dense granules.
  2. Platelets are small- Microthrombocytes
70
Q

Wiskott-Aldrich syndrome
Other instances where small platelets are hallmark
features:

A

TORCH Infections

TORCH (toxoplasma, other agents rubella virus
cytomegalovirus herpesvirus) infections

71
Q

Wiskott-Aldrich syndrome
Thrombocytopenia in WAS is due to:

A
  1. Ineffective thrombocytopoiesis.
  2. Increased platelet sequestration.
  3. Increased platelet destruction.
72
Q

Wiskott-Aldrich syndrome
Treatment:

A
  • Splenectomy
  • Platelet transfusions
  • Bone marrow transplantations
73
Q

Congenital absence of radial bones

A

Thrombocytopenia with absent radii syndrome (TAR)

74
Q

Cardiac and skeletal abnormalities

A

Thrombocytopenia with absent
radii syndrome (TAR)

75
Q

Thrombocytopenia
● Structural defects of platelet dense granules.

A

Thrombocytopenia with absent
radii syndrome (TAR)

76
Q

Gray platelet syndrome

● mutation in the

A

NBEAL2 gene (614169) on chromosome 3p21.

77
Q

Characterized by the specific absence of morphologically recognizable alpha granules.

A

Gray platelet syndrome

78
Q

Virtually absent Alpha granules in platelets

A

Gray platelet syndrome

79
Q

But they do contain vacuoles and small alpha granules precursors.

A

Gray Platelet Syndrome

80
Q

Gray platelet syndrome
● Platelet alpha granules are the

A

Storage site for proteins

81
Q

Gray platelet syndrome

These proteins are either:

A

a. stored in megakaryocytes.
b. Present in the plasma and taken up by the platelets.

82
Q

How many alpha granules are present in platelet

A

50-80 alpha granules

83
Q

Primarily responsible for the granular appearance of platelets

A

50-80 alpha granules

84
Q

Gray platelet syndrome
Manifestations:

A

Lifelong mild bleeding tendencies.
● Moderate thrombocytopenia
● Fibrosis of the marrow
● Large platelets with gray appearance on a wright-stained
smear

85
Q

Virtually absent Alpha granules in platelets.

A

Gray platelet syndrome

86
Q

But they do contain vacuoles and small alpha granules precursors.

A

Gray platelet syndrome

87
Q

Gray platelet syndrome
Membranes and precursors have

A

P-selectin and GPIIB/IIIA expressions.

88
Q

Gray platelet syndrome
Increased levels of

A

Platelet factor 4 and B-thromboglobulin in the
plasma.

89
Q

Platelet factor 4 and B-thromboglobulin in the
plasma are usually stored in

A

alpha granules of platelets.

90
Q

Gray platelet syndrome
Treatment & Management

A
  • Platelet transfusions
  • Cryoprecipitates
  • Desmopressin acetate
91
Q

a rare disorder in which both alpha and dense granules are deficient. Inherited in an autosomal dominant manner

A

Alpha-Dense storage pool deficiency-

92
Q

autosomal dominant bleeding disorder, this results to a deficiency in multimerin. Many alpha granules are degraded by proteases.

A

Quebec Platelet disorder

93
Q

multimeric protein that is stored complexed with
factor V in the alpha granules of platelets.

A

Multimerin

Hematology 2 PPT (7 decks)

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