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Boards.CP.Coagulation > Bernard-Soulier, Storage pool disorders, Glanzman thrombasthenia > Flashcards

Bernard-Soulier, Storage pool disorders, Glanzman thrombasthenia Flashcards

1
Q

Hermansky-Pudlak syndrome:

  • Geographic region
  • Presentation
  • Complications (3)
  • Biopsy findings
A
  • Puerto Rico
  • Epistaxis in children
  • Oculocutaneous Albinism, Pulmonary fibrosis, Granulomatous colitis
  • Ceroidlike material within macrophages (alveolar)
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2
Q

Bernard-Soulier Aggregometry studies show what?

A

Aggregation with all agonists

-EXCEPT Risotocetin (resembing vWD)

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3
Q

Platelet aggregation disorders:

  • Inherited defect (1)
  • Mediators (3)
  • Acquired defects
A
  • Glanzman thrombasthenia
  • GPIIB/IIIa/Fibrinogen
  • Dysfibrinogenemia
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4
Q

What percentage of Hemophilia A or B are new mutations? (no family history)

A

30%

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5
Q

What is the cause of Bernard-Soulier syndrome (BSS)?

  • Inheritance
  • What is decressed on platelet flow cytometry?
A

Decreased/dysfunctional platelet GPIb/V/IX complex

  • Autosomal recessive
  • CD42b
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6
Q

Gray Platelet syndrome:

  • Inheritance
  • Aggregometry findings
  • P. smear
A
  • Autosomal recessive (mild bleeding disorder)
  • Aggregation is blunted with all agents EXCEPT ADP
  • pale gray platelets (lack of alpha granules)
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7
Q

What is the most common cause of platelet type bleeding?

-Also consider? (5)

A

von Willebrand disease

  • Wiskott-Aldrich
  • May-Hegglin
  • Bernard-Soulier
  • Glanzman thrombasthenia
  • Platelet storage diseases
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8
Q

Giant platelets with hearing loss, cataracts, and nephritis are seen in what condition?

A

Fechtner syndrome

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9
Q

The GPIIb/IIIa complex forms what antigen?

A

PLA1 antigen

-affected platelets are PLA1(-)

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10
Q

What are the clinical manifestations of Coagulation type bleeding?

A

Deep seated hemorrhage:

  • Hemarthrosis
  • Intramuscular hematoma
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11
Q

General findings in Dense granule disorders? (3)

A
  • Only 1st wave aggregation
  • ATP secretion is markedly diminished (using chemiluminescence)
  • No dense granules on EM
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12
Q

Platelet Adhesion disorders:

  • Inherited diseases (2)
  • Mediators (2)
  • Acquired defect
A
  • Bernard-Soulier/von Willebrand
  • GPIb/vWF
  • Paraproteinemia
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13
Q

What is the inheritance pattern of Hemophilia A and B?

A

X-linked recessive

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14
Q

Chediak-Higashi syndrome:

  • Biopsy findings
  • Complications (2)
A
  • Ceroidlike material in granulocytes, platelets, melanocytes
  • Oculocutaneous albinism, lymphoproliferative disorders
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15
Q

Platelet storage pool disorders:

  • Abnormal dense granules (3)
  • Abnormal alpha granules (1)
A

Abnormal Dense granules:

  • Hermansky-Pudlak
  • Chediak-Higashi
  • WIskott-Aldrich

Abnormal alpha-granules:
-Gray platelet syndrome

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16
Q

What does the Aggregometry study show in Glanzmann Thrombasthenia?

A

Failure to aggregate with all agonists EXCEPT Ristocetin

17
Q

Wiskott-Aldrich syndrome:

  • Inheritance
  • Triad
  • Gene
A
  • X-linked
  • Thrombocytopenia, Eczema, Immunodeficiency
  • WASP gene
18
Q

What is deficient in Glanzmann Thrombasthenia?

A

GPIIb/IIIa complex

19
Q

Platelet disorders affecting Release action:

  • Inherited defects (2)
  • Mediators (2)
  • Acquired defect
A
  • Platelet release defect/Storage pool disease
  • Granules/Agonists
  • Aspirin
20
Q

What are common causes of pseudothrombocytopenia?

A
  • Platelet aggregation and/or satellitosis

- Giant platelets

21
Q

Giant platelets with Dohle bodies are seen in what condition?

A

May-Hegglin anomaly

22
Q

What is seen on p. smear in Bernard-Soulier?

A
  • Thrombocytopenia

- Giant platelets

23
Q

What are the common clinical manifestations in Platelet type bleeding? (3)

A
  • Bruising
  • Petechiae
  • Purpura
24
Q

The GPIIb is the receptor for what?

A

Fibrinogen

25
Q

Giant platelets with leukocyte inclusions are seen in what condition?

A

Sebastian syndrome

26
Q

The platelet GPIb/V/IX complex (CD42b), is the receptor for what?

A

vWF

27
Q

Platelet type bleeding is caused by what? (3)

-Similar findings are seen in what?

A
  • Thrombocytopenia
  • Defective platelets
  • von Willebrand Disease

Vascular disorders:

  • Osler-Weber-Rendu (hereditary hemorrhagic telangiectasia)
  • Vasculitis
28
Q

What does platelet flow cytometry show in Glanzmann THrombasthenia?

A

Decreased expression of CD41/CD61

  • CD41-GPIIb
  • CD61-GPIIIa

Boards.CP.Coagulation (7 decks)

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