3.1 Qualitative Platelet Disorders Flashcards
Autosomal recessive disorder
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
a b
Deficiency or abnormality of the platelet membrane GP IIb/IIIa
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
a
Clinical manifestation: Petechiae, purpura, menorrhagia, gastrointestinal bleeding, hematuria
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
a
Deficient in Gp IB/IX/V
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
b
Lab features::
- Thrombocytopenia
- Giant Platelets (5-8um)
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
b
Lab features::
- Normal platelet count, and morphology
- abnormal clot retraction
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
A
Treatment of bleeding episodes requires the transfusion of normal platelet
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
a
Lab features::
Platelet aggregation test:
- Normal aggregation to ristocetin
- Defective agg to ADP, collagen, thrombin, epinephrine
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
a
Lab features::
Platelet aggregation test:
- Normal agg to ADP, epinephrine, collagen, arachidonic acid
- Defective agg to ristocetin
- Diminished agg to thrombin
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
b
Platelet transfusion are the therapy of choice (Plateletpheresis)
a. Glanzmann thrombasthenia
b. Bernard-Soulier syndrome
b
Storage pool disease is a problem in granules
T or F
T
Which of the following does not belong to dense granule deficiencies:
- Hermansky-pudlak syndrome
- Gray platelet syndrome
- Chediak higashi syndrome
- Wiskott-Aldrich syndrome
- Thrombocytopenia-absent radius (TAR)
Gray platelet syndrome
Autosomal recessive disorder
a. Hermansky-pudlak syndrome
b. Chediak higashi syndrome
c. Wiskott-Aldrich syndrome
d. Thrombocytopenia-absent radius (TAR)
abd
Characterized by tyrosinase-positive oculocutaneous albinism, defective lysosomal function in a variety of ell types, ceroid-ike deposition in the cells of the R.E system and platelet dense granule deficiency
a. Hermansky-pudlak syndrome
b. Chediak higashi syndrome
c. Wiskott-Aldrich syndrome
d. Thrombocytopenia-absent radius (TAR)
a
Characterized by congenital absense oof the radial bones, numerous cardiac and other skeletal abnormalities and thrombocytopenia
a. Hermansky-pudlak syndrome
b. Chediak higashi syndrome
c. Wiskott-Aldrich syndrome
d. Thrombocytopenia-absent radius (TAR)
d
Characterized by partial oculocutaneous albinism, frequents pyogenic bacterial infections giant lysosomal granules in hematologic cells, platelet dense granule deficiency and hemorrhage
a. Hermansky-pudlak syndrome
b. Chediak higashi syndrome
c. Wiskott-Aldrich syndrome
d. Thrombocytopenia-absent radius (TAR)
b
This disorder is accompanied by severe immunologic defects and progressive neurologic dysfunction
a. Hermansky-pudlak syndrome
b. Chediak higashi syndrome
c. Wiskott-Aldrich syndrome
d. Thrombocytopenia-absent radius (TAR)
b
X- linked inheritance
a. Hermansky-pudlak syndrome
b. Chediak higashi syndrome
c. Wiskott-Aldrich syndrome
d. Thrombocytopenia-absent radius (TAR)
c
T-cell function is defective due to abnormal cytoskeletal reorganization and platelets are structurally abnormal
a. Hermansky-pudlak syndrome
b. Chediak higashi syndrome
c. Wiskott-Aldrich syndrome
d. Thrombocytopenia-absent radius (TAR)
c
Wiskott Aldrich syndrome:
The Classic form of WAS is characterized by a Triad:
I_____________ __________
E______
T_____________ with _______ ________
Immune deficiency
Eczema
Thrombocytopenia with small platelets
An autosomal recessive disorder that has athe absence of morphologiallu recognizable alpha granules in platelets
Gray platelet syndome
Gray platelet syndrome has large platelets that appears Gray on a What stain?
Wright Stain
In Aquired plalelet dysfunction, Drugs are most common cause of acquired platelet dysfunction, what is the most frequent drug?
Aspirin
A single 200mg dose of aspirin can irreversible acetylated 90% of the platelet ________________ (Inactive)
Cyclooxygenase
Disorders that affect platelet function includes:
- Myeloproliferatie neoplasms
- Multiple myeloma
- Waldenstrom macroglobulinemia
- Cardiopulmonary bypass surgery
- Liver disease
- Uremia
- Hereditary afirbrinogenemia
T or F
T
Cyclooxygenase is needed for production of ________________ __
Thromboxane A2
Hyperaagregable platelets includes:
- Hyperlipedemia,
- DM
- Peripheral arterial occlusive disease
- Acute arterial occlusion
- Myocardial infarction
- Stroke
T or F
T
A hyperaggragable platelets that is an autosomal DOMINANT disorder that is characterized in response to ADP, epinephrine or both
Thromboembolic events are often associated with emotional stress
Sticky platelet syndrome
