DISORDERS OF PRIMARY HEMOSTASIS

Question 1

Characterized by hyperextensible skin, hypermobile joints, joint laxity, fragile tissues, subcutaneous hematomas

Answer 1

Ehlers-Danlos Syndrome (Cutis Hyperelastica)

Question 2

Inheritance pattern of Ehlers-Danlos

Answer 2

Autosomal dominant inheritance

Question 3

Most common in children, caused by immunologic damage to endothelial cells, marked by gastrointestinal bleeding and joint swelling

Answer 3

Henoch-Schonlein Purpura (Allergic Purpura, Nonthrombocytopenic Purpura)

Question 4

Caused by a deficiency in ascorbic acid, leading to impaired collagen and hyaluronic acid synthesis

Answer 4

Scurvy (Vitamin C Deficiency)

Question 5

Normal results in vascular disorder

Answer 5

Platelet count, platelet function, coagulation test

Question 6

Abnormal results in vascular disorder

Answer 6

Bleeding time, Rumple-Leede test

Question 7

Most common inherited vascular bleeding disorder characterized by localized dilation of capillary walls (skin and mucous membranes)

Answer 7

Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Syndrome)

Question 8

Quantitative platelet disorder: Impaired or Decreased Platelet Production

Answer 8

Thrombocytopenia

Question 9

Thrombocytopenia increased platelet destruction conditions

Answer 9

HUS, DIC, ITP, TTP

Question 10

HIT mechanism

Answer 10

Platelets activated by heparin-IgG antibodies against Heparin-PF4 complex

Question 11

Thrombocytopenia conditions with impaired or decreased platelet production

Answer 11

Bernard-Soulier syndrome, Fanconi anemia, TAR syndrome, Viral infections, Leukemia, Megaloblastic anemias, Wiskott-Aldrich syndrome, MYH9 gene mutations (e.g., May-Hegglin Anomaly)

Question 12

Thrombocytopenia conditions with increased splenic sequestration

Answer 12

Gaucher disease, Hodgkin’s disease, Sarcoidosis, Lymphoma, Cirrhosis of the liver, Portal hypertension

Question 13

Thrombocytosis: increased platelet count groups

Answer 13

Reactive Thrombocytosis (secondary thrombocytosis), Autonomous Thrombocytosis (Primary thrombocytosis)

Question 14

Reactive Thrombocytosis characteristics

Answer 14

Moderately increased platelet count

Question 15

Reactive thrombocytosis is associated with

Answer 15

Recovery from splenectomy, acute blood loss, major surgery

Question 16

Autonomous Thrombocytosis characteristics

Answer 16

Markedly increased platelet count

Question 17

Conditions associated with Autonomous Thrombocytosis

Answer 17

Myeloproliferative neoplasms (e.g., Essential thrombocythemia, CML, Polycythemia vera, PMF)

Question 18

Clonal proliferation of bone marrow stem cells with elevated myeloid cells

Answer 18

Myeloproliferative Neoplasms (MPNs)

Question 19

Uncontrolled megakaryocyte proliferation, platelet count > 1 million/µL

Answer 19

Essential Thrombocythemia

Question 20

Condition with platelet adhesion disorder due to deficiency of Gp Ib/V/IX

Answer 20

Bernard Soulier Syndrome (BSS)

Question 21

Inheritance pattern of Bernard Soulier Syndrome (BSS)

Answer 21

Autosomal recessive

Question 22

Characteristic platelet appearance in Bernard Soulier Syndrome (BSS)

Answer 22

Giant platelets

Question 23

Aggregation result in Bernard Soulier Syndrome (BSS) with ristocetin

Answer 23

Normal aggregation

Question 24

Most common congenital bleeding disorder

Answer 24

von Willebrand’s Disease (vWD)

Question 25

Deficiency in von Willebrand’s Disease (vWD)

Answer 25

vWF (von Willebrand factor)

Question 26

Inheritance pattern of von Willebrand’s Disease (vWD)

Answer 26

Autosomal dominant

Question 27

Most common type of von Willebrand’s Disease (vWD)

Answer 27

Type I vWD

Question 28

Factor VIII level in von Willebrand’s Disease (vWD)

Answer 28

Decreased factor VIII

Question 29

PT and APTT results in von Willebrand’s Disease (vWD)

Answer 29

Normal PT, prolonged APTT

Question 30

Platelet aggregation results in von Willebrand’s Disease (vWD)

Answer 30

Normal aggregation with ADP, Collagen, Epinephrine/Adrenaline; abnormal with ristocetin

Question 31

Primary platelet surface receptor for vWF in platelet adhesion

Answer 31

GP Ib/IX/V

Question 32

Most common and mildest form of von Willebrand’s Disease (vWD)

Answer 32

Type I vWD

Question 33

Bleeding time and bleeding tendency in Type I von Willebrand’s Disease (vWD)

Answer 33

Normal or increased bleeding time; mild bleeding tendency

Question 34

Petechiae in Type I von Willebrand’s Disease (vWD)

Answer 34

None

Question 35

Bleeding time in Type II von Willebrand’s Disease (vWD)

Answer 35

Increased bleeding time

Question 36

Bleeding tendency in Type II von Willebrand’s Disease (vWD)

Answer 36

Moderate bleeding tendency

Question 37

Petechiae in Type II von Willebrand’s Disease (vWD)

Answer 37

Usually none

Question 38

Rarest and most severe form of von Willebrand’s Disease (vWD)

Answer 38

Type III vWD

Question 39

Bleeding time and bleeding tendency in Type III von Willebrand’s Disease (vWD)

Answer 39

Increased bleeding time; often severe bleeding tendency

Question 40

Petechiae in Type III von Willebrand’s Disease (vWD)

Answer 40

Occasionally present

Question 41

Platelet aggregation disorder with GP IIb/IIIa deficiency

Answer 41

Glanzmann’s thrombasthenia

Question 42

Inheritance of Glanzmann’s thrombasthenia

Answer 42

Autosomal recessive (AR)

Question 43

Bleeding time in Glanzmann’s thrombasthenia

Answer 43

Very prolonged bleeding time

Question 44

Platelet aggregation response in Glanzmann’s thrombasthenia with ACE

Answer 44

Abnormal aggregation

Question 45

Platelet aggregation response in Glanzmann’s thrombasthenia with ristocetin

Answer 45

Normal response

Question 46

Condition with absence of fibrinogen affecting platelet aggregation

Answer 46

Hereditary afibrinogenemia

Question 47

Key receptor for platelet aggregation involving fibrinogen

Answer 47

GP IIb/IIIa

Question 48

Process where platelets adhere to other platelets

Answer 48

Platelet aggregation

Question 49

Disorder with thromboxane pathway involvement

Answer 49

Thromboxane pathway disorders