DISORDERS OF PRIMARY HEMOSTASIS – PLATELET DISORDERS

Question 1

a term wherein there’s a CHANGES IN
PLATELET FUNCTION

Answer 1

THROMBOCYTOPATHY

Question 2

conditions associated with platelet aggregation

Answer 2

• glanzmann thrombasthenia
• hereditary afibrinogenemia
• acquired defects of aggregation
  ✓acquired von willebrand disease
  ✓ acquired uremia

Question 3

conditions associated with platelet adhesion

Answer 3

− Bernard-Soulier Syndrome
− Von Willebrand Disease
− Acquired Defects of Platelet Adhesion
✓ Myeloproliferative/ Lymphoproliferative
Disorders, Dysproteinemias
✓ Antiplatelet Antibodies
✓ Cardiopulmonary Bypass Surgery
✓ Chronic Liver Disease
✓ Drug-Induced Membrane Modification

Question 4

congenital disorders of platelet function based on platelet membrane defects

Answer 4

Glanzmann’s Thrombasthenia
Bernard-Soulier Syndrome
Storage Pool Deficiency (Granule Defect)

Question 5

congenital disorders of platelet function based on platelet release

Answer 5

primary secretion defects (Enzymatic Pathway Defects)

Question 6

In quantitative, we have two ___

Answer 6

thrombocytosis and thrombocytopenia

Question 7

what causes the decrease in plt or thrombocytopenia

Answer 7

increase PLT destruction
Decrease platelet production
abnormal platelet distribution

Question 8

what causes the decrease in plt or thrombocytosis

Answer 8

PRIMARY/ ESSENTIAL
THROMBOCYTOSIS

REACTIVE/ SECONDARY
THROMBOCYTOSI

Question 9

clinical manifestation of bleeding disorders

Answer 9

superficial bleeding
deep tissue bleeding

Question 10

in clinical manifestation of bleeding, superficial bleeding includes

Answer 10

petechiae
epistaxis (nose bleeding)
gingival bleeding

Question 11

in clinical manifestation of bleeding, deep tissue bleeding includes

Answer 11

hematomas
hemarthrosis (joint bleeding)

Question 12

hemarthrosis means bleeding in __

Answer 12

joints

Question 13

In bernard soulier syndrome, ____complex is missing from the platelet surface or exhibits abnormal function

Answer 13

GP Ib/IX/V

Question 14

BERNARD-SOULIER SYNDROME is also known as

Answer 14

giant platelet disorder

Question 15

why BSS is called as giant platelet disorder

Answer 15

because it can grow from 5-8 um up to 20 um

Question 16

BSS is characterized by ___

Answer 16

giant platelets and thrombocytopenia

Question 17

who first studied bernard-soulier syndrome,, where they described two children from a consanguineous family who had a sever bleeding disorder characterized by mucocutaneous hemorrhage

Answer 17

1948, bernard and soulier

Question 18

They identified an abnormality in platelet GPIb as the cause of the functional defect

Answer 18

1975, Nurden and Caen

Question 19

Six different feature features may contribute to the hemorrhagic diathesis in BSS

Answer 19

thrombocytopenia
von willebrand’s factor is deficient (carrier of factor VIII and for adhesion)
abnormal platelet interaction with thrombin
abnormal plt coagulant activity
abnormal plt interactions with P selectin - P selection functions in adhesion
abnormal plt concentrations with leukocyte integrin a MB2

Question 20

Laboratory features of BSS

Answer 20

normal responses to ADP, epinephrine, collagen and arachidonic acid

do not respond to ristocetin and thrombin

Question 21

treatment for BSS

Answer 21

no tx as it is congenital

platelet transfusion - therapy of choice - however causes production ALLOANTIBODIES; thus PLATELETPHERESIS is better

management : desmopressin for enhancement of plt function

Question 22

DDAVP or desmopressin means

Answer 22

1-deamino-8-D-arginine vasopressin

Question 23

this 1-deamino-8-D-arginine vasopressin functions as

Answer 23

increases the function of PLT

Question 24

what is missing in glanzmann thrombasthenia

Answer 24

GbIIb- IIIa responsible for aggregation

Question 25

mode of inheritance of glanzmann thrombasthenia

Answer 25

rare autosomal recessive disease

Question 26

who studied glanzmann thrombastenia

Answer 26

1918, eduard glanzmann

Question 27

which deep tissue bleeding manifestation is not present in glanzmann's thrombasthenia

Answer 27

deep hematoma and recurrent hemarthrosis are not present

Question 28

Manifests in the neonatal period or infancy, with bleeding after circumcision and frequent epistaxis and gingival bleeding

Answer 28

GLANZMANN’S THROMBASTHENIA

Question 29

Originally a bleeding disorder associated with abnormal in vitro clot retraction and normal platelet count

Answer 29

GLANZMANN’S THROMBASTHENIA

Question 30

Hemorrhagic manifestation of glanzmann thrombasthenia

Answer 30

petechiae purpura menorrhage GIT bleeding and hematuria

Question 31

Bleeding is most common from mucosal surfaces (easy bruisability, epistaxis, gingival bleeding, prolonged bleeding for minor cuts and menorrhagia)

Answer 31

glanzmann thrombasthenia

Question 32

in glanzmann thrombasthenia, __ and ___ are seen in infants associated with crying

Answer 32

facial petechiae and subconjunctiva hemorrhages

Question 33

Laboratory features of GLANZMANN THROMBASTHENIA

Answer 33

normal platelet count and platelet morphology lack of plt aggregation in response to all plt activating agent (ADP, collagen, thrombin, epinephrine) ristocetin-induced binding of VWF to plts and the resulting plt agglutination are normal cbc is normal procoagulant activity is diminised GT platelets are not as activated as are normal plts

Question 34

treatment of glanzmann thrombasthenia

Answer 34

transfusion of normal plt to reduce alloabtibodies, single donor plts apheresis recombinant factor VIIa hormonal therapy to control menorrhagia antifibrinolytic therapy to control gingival hemorrhage or excessive bleeding after tooth extraction

Question 35

glanzmann thrombasthenia and bernard-soulier syndrome plt count

Answer 35

normal in GT decrease in BSS

Question 36

glanzmann thrombasthenia and bernard-soulier syndrome morphology

Answer 36

normal in GT giant in BSS

Question 37

glanzmann thrombasthenia and bernard-soulier syndrome bleeding time

Answer 37

both prolonged - parehong plt function and problem eh

Question 38

glanzmann thrombasthenia and bernard-soulier syndrome plt aggregation - ADP

Answer 38

abnormal in GT normal in BSS

Question 39

glanzmann thrombasthenia and bernard-soulier syndrome PLT AGGREGATION THROMBIN

Answer 39

both abnormal

Question 40

glanzmann thrombasthenia and bernard-soulier syndrome plt aggregation - collagen

Answer 40

both abnormal

Question 41

glanzmann thrombasthenia and bernard-soulier syndrome plt aggregation - epinephrine

Answer 41

abnormal GT normal BSS

Question 42

glanzmann thrombasthenia and bernard-soulier syndrome plt aggregation - ristocetin

Answer 42

normal GT abnormal BSS

Question 43

what are the aggregating agent

Answer 43

ADP THROMBIN COLLAGEN EPINEPHRINE RISTOCETIN

Question 44

QUEBEC plt disorder is originally described as

Answer 44

Platelet Factor 5 quebec

Question 45

problem in quebec platelet disorder

Answer 45

platelet factor 5

Question 46

problem in quebec platelet disorder

Answer 46

inability to form clot all together as it lacks PF5

Question 47

Quebec platelet disorder characterized by

Answer 47

bleeding - specific defect in plt function

Question 48

this plt disorder resembles BSS

Answer 48

MEDITERRANEAN MACROTHROMBOCYTOPENIA

Question 49

mode of inheritance of Mediterranean macrothrombocytopenia

Answer 49

autosomal dominant thrombocytopenia in relation with BSS, it's autosomal recessive

Question 50

Mediterranean macrothrombocytopenia has a gene mutation to the short arm of chromosome ___

Answer 50

17 (GP Ia)

Question 51

genotype and phenotype are equivalent to that of carrier of bernard soulier syndrome

Answer 51

Mediterranean macrothrombocytopenia

Question 52

PLATELET STORAGE POOL DISEASE

Answer 52

hermansky-pudlak syndrome chediak higashi syndrome wiskott-aldrich syndrome gray plt syndrome

Question 53

mode of inheritance of hermansky-pudlak syndrome

Answer 53

rare autosomal recessive disorder

Question 54

patient shows albinism (oculocutaneous) and may have hemorrhagic events

Answer 54

hermansky-pudlak syndrome

Question 55

characterized by tyrosinase-positive oculocutaneous albinism, defective lysosomal function in a variety of cell types, ceroid-like deposition in the cells of the RES and profound platelet dense granule deficiency

Answer 55

hermansky-pudlak synrome

Question 56

HERMANSKY-PUDLAK SYNDROME (HPS) which chromosome is affected

Answer 56

chromosome 19

Question 57

Marked dilation and tortuosity of the surface connective tubular system (Swiss cheese platelet)

Answer 57

HERMANSKY-PUDLAK SYNDROME (HPS)

Question 58

is bleeding in hermansky pudlak syndrome severe?

Answer 58

,most bleeding is not severe

Question 59

An autosomal-recessive disorder, in which patients show albinism and giant lysosomal granules in neutrophils

Answer 59

chediak higashi syndrome

Question 60

Storage pool defect on dense granules

Answer 60

chediak higashi syndrome

Question 61

Patients show frequent infections because of impaired phagocytic ability and death usually occurs in childhood

Answer 61

chediak higashi syndrome

Question 62

lab findings in chediak higashi syndrome

Answer 62

Neutropenia is present thrombocytopenia

Question 63

Partial oculocutaneous albinism

Answer 63

CHEDIAK-HIGASHI SYNDROME

Question 64

Platelet dense granule deficiency and hemorrhages

Answer 64

CHEDIAK-HIGASHI SYNDROME

Question 65

An X-linked recessive disorder in which patients show severe eczema, recurrent infections, immune defects, thrombocytopenia and small platelets

Answer 65

WISKOTT-ALDRICH SYNDROME

Question 66

WISKOTT-ALDRICH SYNDROME triad

Answer 66

thrombocytopenia eczema recurrent infection

Question 67

diseases or conditions that patients with hermansky pudlak syndrome can acquire

Answer 67

albinism lung disease (pulmonary fibrosis) bleeding problem vision loss defect in plt granules

Question 68

Alpha granules are absent or greatly reduced

Answer 68

GRAY PLATELET SYNDROME

Question 69

Gray platelet syndrome will result into leakage of

Answer 69

growth factor and cytokines in the marrow causing myelofibrosis

Question 70

mode of inheritance of Gray plt syndrome

Answer 70

autosomal recessive

Question 71

GRAY PLATELET SYNDROM characteristics

Answer 71

thrombocytopenia fibrosis of the marrow large platelet

Question 72

plt satellitism cause

Answer 72

anticoagulant - ply surrounds the neutrophil

Question 73

ACQUIRED DEFECTS OF PLATELET FUNCTION

Answer 73

myeloproliferative disorders cardiopulmonary bypass paraproteinemia liver disease uremia

Question 74

MYELOPROLIFERATIVE DISORDERS (MPD) is characterized by

Answer 74

polycythemia vera idiopathic myelofibrosis cmk essential thrombocythemia

Question 75

Hemorrhagic manifestations of myeloproliferative disorders

Answer 75

epistaxis ecchymosis mucocutaneous bleeding from GUT and GIT