Bernard-Soulier, Storage pool disorders, Glanzman thrombasthenia Flashcards
Hermansky-Pudlak syndrome:
- Geographic region
- Presentation
- Complications (3)
- Biopsy findings
- Puerto Rico
- Epistaxis in children
- Oculocutaneous Albinism, Pulmonary fibrosis, Granulomatous colitis
- Ceroidlike material within macrophages (alveolar)
Bernard-Soulier Aggregometry studies show what?
Aggregation with all agonists
-EXCEPT Risotocetin (resembing vWD)
Platelet aggregation disorders:
- Inherited defect (1)
- Mediators (3)
- Acquired defects
- Glanzman thrombasthenia
- GPIIB/IIIa/Fibrinogen
- Dysfibrinogenemia
What percentage of Hemophilia A or B are new mutations? (no family history)
30%
What is the cause of Bernard-Soulier syndrome (BSS)?
- Inheritance
- What is decressed on platelet flow cytometry?
Decreased/dysfunctional platelet GPIb/V/IX complex
- Autosomal recessive
- CD42b
Gray Platelet syndrome:
- Inheritance
- Aggregometry findings
- P. smear
- Autosomal recessive (mild bleeding disorder)
- Aggregation is blunted with all agents EXCEPT ADP
- pale gray platelets (lack of alpha granules)
What is the most common cause of platelet type bleeding?
-Also consider? (5)
von Willebrand disease
- Wiskott-Aldrich
- May-Hegglin
- Bernard-Soulier
- Glanzman thrombasthenia
- Platelet storage diseases
Giant platelets with hearing loss, cataracts, and nephritis are seen in what condition?
Fechtner syndrome
The GPIIb/IIIa complex forms what antigen?
PLA1 antigen
-affected platelets are PLA1(-)
What are the clinical manifestations of Coagulation type bleeding?
Deep seated hemorrhage:
- Hemarthrosis
- Intramuscular hematoma
General findings in Dense granule disorders? (3)
- Only 1st wave aggregation
- ATP secretion is markedly diminished (using chemiluminescence)
- No dense granules on EM
Platelet Adhesion disorders:
- Inherited diseases (2)
- Mediators (2)
- Acquired defect
- Bernard-Soulier/von Willebrand
- GPIb/vWF
- Paraproteinemia
What is the inheritance pattern of Hemophilia A and B?
X-linked recessive
Chediak-Higashi syndrome:
- Biopsy findings
- Complications (2)
- Ceroidlike material in granulocytes, platelets, melanocytes
- Oculocutaneous albinism, lymphoproliferative disorders
Platelet storage pool disorders:
- Abnormal dense granules (3)
- Abnormal alpha granules (1)
Abnormal Dense granules:
- Hermansky-Pudlak
- Chediak-Higashi
- WIskott-Aldrich
Abnormal alpha-granules:
-Gray platelet syndrome
What does the Aggregometry study show in Glanzmann Thrombasthenia?
Failure to aggregate with all agonists EXCEPT Ristocetin
Wiskott-Aldrich syndrome:
- Inheritance
- Triad
- Gene
- X-linked
- Thrombocytopenia, Eczema, Immunodeficiency
- WASP gene
What is deficient in Glanzmann Thrombasthenia?
GPIIb/IIIa complex
Platelet disorders affecting Release action:
- Inherited defects (2)
- Mediators (2)
- Acquired defect
- Platelet release defect/Storage pool disease
- Granules/Agonists
- Aspirin
What are common causes of pseudothrombocytopenia?
- Platelet aggregation and/or satellitosis
- Giant platelets
Giant platelets with Dohle bodies are seen in what condition?
May-Hegglin anomaly
What is seen on p. smear in Bernard-Soulier?
- Thrombocytopenia
- Giant platelets
What are the common clinical manifestations in Platelet type bleeding? (3)
- Bruising
- Petechiae
- Purpura
The GPIIb is the receptor for what?
Fibrinogen
Giant platelets with leukocyte inclusions are seen in what condition?
Sebastian syndrome
The platelet GPIb/V/IX complex (CD42b), is the receptor for what?
vWF
Platelet type bleeding is caused by what? (3)
-Similar findings are seen in what?
- Thrombocytopenia
- Defective platelets
- von Willebrand Disease
Vascular disorders:
- Osler-Weber-Rendu (hereditary hemorrhagic telangiectasia)
- Vasculitis
What does platelet flow cytometry show in Glanzmann THrombasthenia?
Decreased expression of CD41/CD61
- CD41-GPIIb
- CD61-GPIIIa
