Qualitative disorders Flashcards
- Decreased/absence of gp IIb/IIIa (fibrinogen receptor)
- Seen in consanguinity
- Bruising, epistaxis, mucus membrane bleeding, menorrhagia, GIT
bleeding, and hematuria
a. Glanzmann’s
b. Berard-Soulier
c. Quebec
d. Gray platelets
Glanzmann’s Thrombasthenia
Treatment is transfusion (single-donor)
- Decreased/lacks aggregation with epinephrine, ADP, collagen, and thrombin
- Normal aggregation response with ristocetin
- Lack of clot retraction
a. Glanzmann’s
b. Bernard-Soulier
c. Chediak-Higashi
a. Glanzmann’s
b. Bernard-Soulier
c. Chediak-Higashi
- Giant platelets that lack** gp Ib/IX/V** receptor
- Autosomal recessive trait
a. Glanzmann’s
b. Bernard-Soulier
c. Chediak-Higashi
b. Bernard-Soulier
- Normal aggregation with “EAC” and arachidonic acid
- No aggregation to ristocetin, diminished response to thrombin
- Prolonged bleeding time
- Normal CRT, aPTT and PT
a. Glanzmann’s
b. Bernard-Soulier
c. Chediak-Higashi
a. Glanzmann’s
b. Bernard-Soulier
c. Chediak-Higashi
have the most severe thrombocytopenia among the Inherited Giant Platelet Syndromes
a. Gray platelets
b. Montreal
c. May-Hegglin
Montreal platelet syndrome
no bleeding or other symptoms
a. Mediterranean macrothrombocytopenia
b. Montreal
c. May-Hegglin
a. Mediterranean macrothrombocytopenia
- autosomal dom
- Absent or abnormal vWF which is needed for platelets to adhere to collagen in damaged vessels
von Willebrand’s Disease
Most common hereditary hemorrhagic disorder
a. vWF disease
b. Montreal
c. May-Hegglin
a. vWF disease
Reduced/lack concentrations
and defective release reaction
of storage granules
a. vWF disease
b. Storage pool disorders
c. May-Hegglin
b. Storage pool disorders
Mutations in genes that encode
proteins involved in intracellular vesicle
trafficking and biogenesis of organelles.
Hermansky-Pudlack Syndrome
Characteristics:
1. Oculocutaneous albinism
2. Defective lysosomal function
3. Ceroid-like pigment in macrophages
4. Dense granule deficiency - bleeding
Hermansky-Pudlack Syndrome
Mutations resulting to generalized dysfunction involving fusion of cytoplasmic granules
Chediak-Higashi
Syndrome
Partial oculocutaneous albinism
2. Frequent pyogenic bacterial infection
3. Hemorrhage
4. Giant lysosomes in all granule-containing cell
5. Dense granule deficiency – bleeding
Chediak-Higashi
Syndrome
Dense granules deficiency
* X-linked
* Mutation in WASp
* WASp plays a crucial role in actin
cytoskeleton remodeling
Wiskott-Aldrich
Syndrome
- Microthrombocytopenia (small platelets, low MPV)
- Recurrent infections
- Eczema
Wiskott-Aldrich
Syndrome
Lifelong bleeding (mild) tendencies
Gray Platelet Syndrome
- Large platelets
- Gray or blue gray platelets
- Thrombocytopenia
- BM fibrosis
Gray Platelet Syndrome
A rare disorder in which both a-granules and dense granules are deficient
alpha-Dense Storage Pool Deficiency
Inherited deficiency of
cyclooxygenase or thromboxanesynthetase
Aspirin-Like Effects
Platelets have normal granules but defective release
Thromboxane A2 is required for storage
granule secretion
Thromboxane Pathway Disorders:
Aspirin-Like Effects
– rare autosomal recessive disorder of
**calcium-induced **membrane phospholipid scrambling (necessary for coagulation factor assembly) and thrombin generation on platelets
Scott Syndrome
platelets are always in an
“activated” state
Stormorken Syndrome
antibiotic that block receptor-agonists reaction, inhibit calcium influx
a.B lactams
b. nitrofurantoin
a. B lactams
Platelets have abnormal shapes,
decreased procoagulant activity,
and a decreased number of
secretory granules
a. Myeloproliferative neoplasm
b. Multiple Myeloma
c. Cardiopulnonary bypass surgery
a. Myeloproliferative neoplasm
Platelet dysfunction caused by
coating of platelet membranes by
paraprotein
a. Myeloproliferative neoplasm
b. Multiple Myeloma
c. Cardiopulnonary bypass surgery
b. Multiple Myeloma
- increased sensitivity to platelet agonists.
a. Sticky platelet
b. spontaneouss aggregation
c. exhausted
b. spontaneouss aggregation
