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HEMA LEC 2 > M4 QUALITATIVE PLATELET DISORDERS (CONGENITAL) > Flashcards

M4 QUALITATIVE PLATELET DISORDERS (CONGENITAL) Flashcards

1
Q

Excessive bruising and superficial (mucocutaneous)
bleeding in a patient whose platelet count is normal
suggest an ____

A

acquired or a congenital disorder of platelet
function.

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2
Q

2 TYPES OF QUALITATIVE PLATELET DISORDERS

A

I. Inherited Functional Defects
○ Congenital
II. Acquired Functional Defects

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3
Q

With___, organs are just seldomly affected

A

platelet disorder

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4
Q

Defects in
platelet-vessel wall
interaction

A

Adhesion

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5
Q

Defects in
platelet-platelet interaction

A

Aggregation

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6
Q

Disorders of platelet
secretion and
abnormalities of granules

A

Platelet secretion

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7
Q

. Disorders of platelet
secretion and signal
transduction defects

A

Platelet activation
● G-protein binding
● Agonist

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8
Q

Defects in cytoskeletal
regulation

A

Morphology: Size and shape

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9
Q

Disorders of platelet
coagulant-protein
interaction

A

Secondary hemostasis
● Phosphatidylserine

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10
Q

Important
____ and ___are contained in the platelet
granules, so if there would be defect in the secretion, it follows
that there are abnormalities in the granules

A

protein and non-protein mediators

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11
Q

For the cytoskeletal regulation, we know that we have the
structural zone of the platelet so maybe there is a problem in
the ____, ___ and ___

A

microtubules, microfilaments and the intermediate
filaments

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12
Q

For the problem on the platelet coagulant-protein
interaction, we know that the platelets are involved in the
secondary hemostasis so maybe there is a problem in the
flippin out of the____ from the inner membrane
to the outer membrane

A

phosphatidylserine

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13
Q

2 types of adhesion defects

A
  1. Bernard-Soulier Syndrome
  2. von Willebrand’s Disease
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14
Q

Involves qualitative and quantitative defects
qualitative:
quantitative:

A

BERNARD-SOULIER SYNDROME

Qualitative Defects
● Function
○ Adhesion
● Morphology
○ Giant platelets
Quantitative Defects
● Thrombocytopenia

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15
Q
A
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16
Q

Autosomal recessive abnormality in the platelet
GPlb/V/IX complex

A

BERNARD-SOULIER SYNDROME

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17
Q

Autosomal recessive abnormality in the platelet
GPlb/V/IX complex

A

Missing from the platelet surface or exhibits
abnormal function
○ Inability to bind to VWF
○ Inability of platelets to adhere to exposed
subendothelium

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18
Q

💡 GPlb/V/IX complex

A

Indirect Platelet Adhesion defect

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19
Q

BERNARD-SOULIER SYNDROME
Rare disorder of platelet adhesion that usually
manifests in____ with
hemorrhage characteristics of defective platelet
function: ecchymoses, epistaxis, and gingival
bleeding

A

infancy or childhood

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20
Q

Rare disorder of platelet adhesion that usually
manifests in infancy or childhood with
hemorrhage characteristics of defective platelet
function: ___

A

-BERNARD-SOULIER SYNDROME
-ecchymoses, epistaxis, and gingival
bleeding

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21
Q

bleeding of the joints

A

Hemarthrosis

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22
Q

This complex is important in indirect platelet adhesion

A

GPlb/V/IX complex

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23
Q

Because of this abnormality, this _____
is missing from the platelet surface and it would lead
to abnormal function affecting adhesion

A

glycoprotein complex

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24
Q

The effect is that there would be inability to bind to
______ and inability of platelets to
adhere to ____

A

von Willebrand factor, exposed subendothelium

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25
Q

It manifests thrombocytopenia with giant platelet because
of the abnormalities that affect both platelet production and
platelet structure

A

Bernard-Soulier Syndrome

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26
Q

Bernard-Soulier Syndrome
LABORATORY FINDINGS

A
  1. 40,000/uL to near normal
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27
Q

NORMAL - BS

A

ADP
Arachidonic Acid
Collagen
Epinephrine

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28
Q

ABNORMAL -BS

A

Ristocetin
Thrombin

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29
Q

Peripheral Blood Smear

A

○ 5 to 8 um in diameter
○ Can be as large as 20 um

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30
Q

Contain a larger number of cytoplasmic
vacuoles and membrane complexes

A

Electron microscopy

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31
Q

Electron microscopy
○ Contain a larger number of ___ and ___

A

cytoplasmic vacuoles and membrane complexes

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32
Q

Electron microscopy
____ exhibit an irregular
demarcation membrane system

A

Megakaryocytes

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33
Q

VON WILLEBRAND’S DISEASE
● Involves qualitative and quantitative defects
Qualitative Defects
____
Quantitative Defects
_____

A

● Function
○ Adhesion

● Thrombocytopenia

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34
Q

Mutations result in spontaneous binding of
plasma VWF to the mutated GP Ib/IX/V complex

A

VON WILLEBRAND’S DISEASE

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35
Q

With regards to von Willebrand’s disease, if it is
related with the platelet function then it is called
____

A

platelet-type VWD or pseudo-VWD

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36
Q

____ is related to coagulation disorder

A

True-VWD

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37
Q

The spontaneous binding of the von willebrand factor to the
mutated GP Ib/IX/V causes these complexes to continuously
be removed from the circulation which will result to
____ and ___

A

thrombocytopenia and reduced factor VIII clotting activity

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38
Q

And there is ____ of clot even if there is
binding of the von willebrand factor with GP Ib/IX/V

A

no formation

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39
Q

VWD subtypes: Quantitative deficiency

A

Type 1 and 3

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40
Q

VWD subtypes: Qualitative deficiency

A

Type 2

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41
Q

Type 2A

A

Deficiency of HMW multimers

2A(A= Absence)

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42
Q

Type 2B

A

Binding of vWF and GPIb

2B (Binding)

43
Q

Type 2M

A

With HMW multimers

2M (M= Multimers)

44
Q

Type 2N

A

No binding of vWF and FVIII

45
Q

Diff of Type 1 and 3

A

type 1: partial deficiency
type 3: complete

46
Q

2 Types AGGREGATION DEFECTS

A
  1. Glanzmann thrombasthenia
  2. Inherited Giant Platelet Syndromes
47
Q

Quantitative or qualitative defect in the GPIIb/IIIa
complex

A

Glanzmann thrombasthenia

48
Q

Inability of fibrinogen to bind with platelets: von
willebrand factor (VWF), fibronectin, and other
adhesive ligands

A

Glanzmann thrombasthenia

49
Q

Glanzmann thrombasthenia

Lack ____: clot retraction
defect

A

thrombosthenin/actomyosin

50
Q

Glanzmann thrombasthenia
Qualitative Defects
____
Quantitative Defects
____

A

● Present GPIIb/IIIa but non-functional
● Missing GPIIb/IIIa in platelet

51
Q

Glanzmann thrombasthenia

Hemorrhagic manifestations:

A

○ Petechiae
○ Purpura
○ Menorrhagia
○ Gastrointestinal bleeding
○ Hematuria

52
Q

Glanzmann thrombasthenia
Severity of the bleeding episodes seems to
_____ with age

A

decrease

53
Q

Aggregation Test - GT
Normal

A

Ristocetin

54
Q

Aggregation Test - GT
Abnormal

A

ADP
Collagen
Epinephrine
Thrombin

55
Q

📑 So the problem with Glanzmann is the defect in the GP
IIb/IIIa

A

● Hereditary Afibrinogenemia
● Hereditary Hypofibrinogenemia

56
Q

➔ With defect, if the level of fibrinogen is low or is
absent in the plasma, it will lead to___

A

aggregation
defects

57
Q

Fibrinogen is from the ___

A

liver

58
Q

Exhibit large platelets and thrombocytopenia

A

INHERITED GIANT PLATELET SYNDROMES

59
Q

Abnormal microtubule distribution

A

● May-Hegglin anomaly

60
Q

Spherical and have a prominent
surface-connected canalicular system

A

Epstein syndrome

61
Q

A. Decreased
platelets
B. Giant platelets

A

Macrothrombocytopenia

62
Q

TYPES PLATELET SECRETION DEFECTS

A
  1. Dense granules deficiencies
  2. Alpha granules deficiencies
  3. Alpha-dense storage pool deficiency
63
Q

Most common hereditary platelet function defects
● Manifestations

A

○ Mucocutaneous hemorrhage and hematuria
○ Epistaxis
○ Easy and spontaneous bruising
○ Less common petechiae
○ Rare hemorrhage

64
Q

Two granules that is contained in the platelet
ultrastructure

A

Dense granule
⍺-granule

65
Q

DENSE GRANULES DEFICIENCIES

A
  1. Hermansky-Pudlak Syndrome
  2. Wiskott-Aldrich Syndrome
  3. Chediak-Higashi
  4. TAR (Thrombocytopenia with absent radius)
66
Q

➔ Dense granules deficiencies are only responsive
in ____of collagen

A

high concentration

67
Q

💡 For aggregation tests:
💡 For coagulation tests:

A

Platelet plasma rich
Platelet plasma-poor

68
Q

HERMANSKY-PUDLAK SYNDROME

A

💡 Mutation: HPS (HPS 1 & HPS 3)

69
Q

HPS1
(Hermansky-Pudlak Syndrome 1) & HPS3
(Hermansky-Pudlak Syndrome 3)

Defect in___

A

Defect in chromosome 19

70
Q

____
vesicular trafficking, ___ of organelles

A

intracellular, biogenesis

71
Q

Marked dilation and tortuosity of the surface
connecting tubular system

A

“Swiss-cheese platelet”

72
Q

“Swiss-cheese platelet”

● Oculocutaneous albinism
● Prone to hemorrhage

A

HERMANSKY-PUDLAK SYNDROME

73
Q

CHEDIAK-HIGASHI SYNDROME

Defect in __

A

● Chromosome 1 (1q42.3)

74
Q

Nonsense and frameshift mutations
○ Nonsense mutations are also k

A

CHEDIAK-HIGASHI SYNDROME

75
Q

Gives rise to a disorder of generalized cellular
dysfunction involving fusion of cytoplasmic
granules

A

CHEDIAK-HIGASHI SYNDROME

76
Q

CHEDIAK-HIGASHI SYNDROME
Involved are ___, ___ and ___
💡 Affected are also giant platelets

A

Involved are monocytes, lymphocytes, and neutrophils
💡 Affected are also giant platelets

77
Q

WISKOTT-ALDRICH SYNDROME

A

💡 Mutation: WAS gene

78
Q

other name : WISKOTT-ALDRICH SYNDROME

A

Eczema Thrombocytopenia
Immunodeficiency Syndrome

79
Q

WAS gene mutations: lack of any functional
___

A

WASP (Wiskott-Aldrich Syndrome Protein)

80
Q

WAS

A

X chromosome Xp11.23

81
Q

WAS is related to ___

A

Related with T-lymphocytes

82
Q

Relaying signals from the surface of blood
cells to the actin cytoskeleton
◆ There is a problem with the
structure or in the Sol Gel because
the affected actin skeleton

A

WAS

83
Q

____ has also problem in platelet
adhesion, actin cytoskeleton and leading to reduce size
and early cell death.

A

Wiskott-Aldrich Syndrome

84
Q

💡 3 Defects: ____
💡 Small platelets = WAS

A

Adhesion defect, Secretion defect, SizE

85
Q

The only one with small platelets

A

WAS

86
Q

two types of ⍺-GRANULES DEFICIENCIES

A

Gray Platelet Syndrome
Quebec Platelet Syndrome

87
Q

GRAY PLATELET SYNDROME

A

NbEAL2 gene

88
Q

QUEBEC PLATELET SYNDROME

A

📑 Alpha granules are present, but plasmin degrades or
destroys the contents of alpha granules

89
Q

Gray platelet disorder

A

absent alpha granules

90
Q

Both 𝛼-granules and dense granules are deficient

A

⍺-DENSE STORAGE POOL DEFICIENCY

91
Q

___ has also no alpha and dense granules

A

WAS

92
Q

INHERITED DISORDERS OF RECEPTORS AND
SIGNALING PATHWAYS

A
  1. Scott Syndrome
  2. Stormorken Syndrome
93
Q

Collagen receptors

A

○ ⍺2 (GP Ia/IIa), GP VI

94
Q

Adenosine diphosphate receptors

A

○ P2Y1 And P2Y12 (P2 TAC)

95
Q

Other receptors

A

○ ⍺2-adrenergic (epinephrine) receptor

96
Q

Calcium mobilization defects

A

○ Insufficient calcium is released
○ Abnormal G protein s-ubunits
○ Phospholipase C isoenzymes

97
Q

💡 Decreased calcium scramblase

A

Scott syndrome

98
Q

Calcium is released from

A

dense tubular system

99
Q

SCOTT SYNDROME
Phospholipid asymmetry is primarily maintained
by ____

A

aminophospholipid translocase

100
Q

Defective translocating ____ to the platelet
membrane inner to outer leaflet

A

SCOTT SYNDROME

phosphatidylserine and
phosphatidylethanolamine

101
Q

Impaired thrombin formation

A

SCOTT SYNDROME

102
Q

💡 Uncontrolled phosphatidylserine

A

STORMORKEN SYNDROME

103
Q

DIFF OF SCOTT AND STORMORKEN

A

● In Scott Syndrome, scramblase has low activity

● In Stormorken Syndrome, scramblase has
overactivated activity

104
Q

Defective aminophospholipid translocase

A

STORMORKEN SYNDROME

HEMA LEC 2 (2 decks)

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