Qualitative Disorder (1) - 1
Qualitative Disorder (1) - 1
Qualitative Disorder (1) - 1
Platelet Disorders
Objectives
• Describe the defects in Bernard Soulier
Syndrome and Glanzmann Thrombasthenia.
• Understand the laboratory findings for the
qualitative platelet disorders.
• Learn about the storage pool disorders.
• Compare the von Willebrand Disease to
Bernard Soulier Syndrome.
Platelet Function
Figure 45-07. Scanning electron micrograph of resting (A) and activated (B) platelets.
Platelet Action
Qualitative Defects
• May be either:
1. Congenital
Platelet surface
membrane defects
Platelet release or
secretion defects
Platelet coagulant activity
defects
Defects associated with
abnormal platelet-
coagulant protein
interactions
2. Acquired
Bleeding
Similar to what is seen with
thrombocytopenic disorders
Missing or defective
GPIIb/IIIa complex
Glanzmann Thrombasthenia
• Clinical presentation
– Purpura and epistaxis are the most frequent
types of bleeding, especially in children
– Bleeding may decrease with age
– Great variability in bleeding even within
kindred (family)
• Laboratory findings
– Platelet count and morphology are normal
Glanzmann Thrombasthenia
Laboratory Findings:
• Laboratory Findings:
– Thrombocytopenia: 60 - 100 x 103/L
– Platelets are large and appear “gray” on Wright’s stained
smear (hence the name)
– Marked deficiency of alpha granules
– Dense granules are normal
– Platelet aggregation studies are fairly normal since 2o
aggregation wave due primarily to dense granule release
Secretion Disorders
Inability to Release Dense Granule Contents
No abnormalities in Includes defects in the
platelet granules and of arachidonic acid pathway
Deficiency of cyclo-oxygenase
normal amount thus deficient conversion of
Release defects is arachidonic acid to tromboxane
caused by deficiencies A2
of enzymes and “second Deficiency of thromboxane
synthetase
messengers”
Often called “aspirin-like” defects
Abnormalities may be in Granules are normal by electron
the platelet stimulus- microscopy
response coupling Bleeding with mild, just as with
Involves the metabolic aspirin, supporting fact that there
pathways leading from are other pathways to activate
receptor occupation to platelets (e.g., thrombin) that do
platelet aggregation and not require this pathway
secretion
ABNORMAL PLATELET-COAGULANT
PROTEIN INTERACTION
• von Willebrand Disease
von Willebrand Disease
• The most common Classifications:
inherited abnormality •Type 1: quantitative decrease in
vWF and mild bleeding. Most
of platelet function common variant (80%)