Qualitative Platelet Disorders: Direndegen Omaira R. Sampiano Johannah B

Qualitative Platelet Disorders
Direndegen Omaira R.
Sampiano Johannah B.
Thrombocytopathy
• Designates platelets that are qualitatively

abnormal.
• Defective platelet function can be caused by
large variety of conditions.
Qualitative Platelet Disorders
• Excessive bruising, superficial bleeding, and
prolonged bleeding time in a patient whose
platelet count is normal.
• INHERITED
• ACQUIRED
INHERITED DEFFECT
• Adhesion
• Aggregation
• Secretion
Adhesion Defect
• Refers to the sticking of platelets to any surface

of other platelets.
• Disruption of the Endothelial vascular lining
exposes subendothelial component such as
collagen and basement membrane.
• Von Willebrand factor (vWF) is the substance
receptor that required for platelet adhesion.
Bernard-Soulier Syndrome
-prolonged bleeding time
-abnormal prothrombin consumption
-giant platelets
• Rare inherited bleeding disorder
• Inherited as an autosomal recessive disorder,
usually involving consanguinity.
Pathophysiology
• Platelet lack the membrane receptor of Gp Ib that is
necessary for them to bind with vWF.
Laboratory Findings
• Mild to moderate thrombocytopenia is a frequent but
inconsistent findings
• Plate Anisocytosis on a blood film is marked. (2.5-8 um
in diameter)
• Other than size, the appearance of the large platelets
generally is normal, al-though occasionally, there is a
central clustering of granules referred to as a
pseudonucleus.
Von Willebrand Disease
• Lack the plasma protein that appears to link the platelet

with the damaged vessel.
• Missing of defective von Willebrand factor (VWF) a
clotting factor.
Aggregation Defect
• The sticking of platelet to platelets.
• Aggregation is a dynamic and metabolically active
process which refers to platelet clumping that is not
dependent on metabolic processes such as the release of
ADP.
• Gp IIb and Gp IIIa which together form the fibrinogen
receptor.
Glanzzmann’s Thrombasthenia
• Inherited in an autosomal recessive manner.
• Associated with consanguinity, affect the two sexes
equally.
Pathophysiology
• Fibrinogen is a necessary cofactor for the aggregation of
human platelets by ADP.
• Type I: The platelets lacking Gp Iib-IIIa as well as
intraplatelet fibrinogen.
• Type II: Platelet contain subabnormal levels of
fibrinogen and the amount of Gp Iib-IIIa complexes is
around 15% of normal.
Clinical Pictures
▫ Bruising
▫ Epistaxis
▫ Bleeding from mucuos membrane
▫ Gastrointestinal bleeding
▫ Menorrhagia
- Ecchymosis frequently seen at birth or early in

life, but the severity of the hemorrhagic
complications tends to decrease with age.
Laboratory Findings
• Platelets are normal in size and morphology and have a

normal life span.
• Normal amounts of platelet factor 4 (PF4), serotonin and
ADP secretion can be induced by exposure to thrombin.
• Platelet retention is a glass bead column that requires both
adhesion and aggregation is reduced markedly in most cases.
Adhesion to vascular subendothelium is normal.
• The platelet Gp IIb-IIIa content is about 50% of normal in
patients who are heterpzygous for Glanzmann’s
thrombasthenia.
Afibrinogenemia
• Rare disorders
• A plasma defect that will cause a platelet
aggregation disorder similar to
Glanzmann’s thrombasthenia.
Release Disorders
• Abnormal release of ADP may be secondary to a lack of

granules or a deficient quantity of ADP stored in the
granules.
• A second type of release disorder is caused by impaired
secretion of normal granules contents.
• The platelets undergo a shape change, expose various
membrane-related glycoproteins and clump.
Storage Pool Defects
• Lack of alpha granules, beta granules or both.
• Beta-granule deficiencies are much more common and are
more likely to be associated with severe bleeding than
alpha-granules deficiencies.
Gray platelet syndrome

• A rare which the method of genetic transmission is not certain,
although it appears to be autosomal dominant.
Wiskott-Aldrich syndrome
• Characterized by the triad of thrombocytopenia, recurrent infections
and eczema
• Thrombocytopenia in this patients has been attributed to both rapid
platelet turnover and ineffective production
• Have been reported to be lacking in storage pool nucleotides.
Hermansky-Pudlak syndrome
• A traid of tyrosinase-positive oculocutaneous albinism,
accumulationof ceroid-like pigment in macrophages, and
a bleeding tendency associated with abnormal platelet
function.
Chediak-Higashi anomaly
• A albinism, re-current infections, and giant lysosomes in
all granules containing cells.
• The ratio of ATP to ADP in these platelet is consistent
with a beta-granule deficiency.
• It is secondary wave of aggregation that is abnormal or
absent.
Granules Release Defect
• The clinical picture and laboratory findings in the

heterogeneous group of granules-release defect.
• Patient with cyclooxygenase deficiency have a mild
bleeding disorders, and treatment usually consists of
voiding antiplatelet drugs and use of hormonal therapy
to control menorrhagia.
ACQUIRED DEFECTS
• Drugs – There is a long list of drugs reported to affect
platelet function, with aspirin, the penicillins and
alcohol being reported to cause clinical bleeding
problems.
• The prolongation of the bleeding time after aspirin
ingestion is variable. Two hours after taking, most
people show a 2- to 9 minute prolongation. About 10%
to 15% of the population will have less than a 2-minute
prolongation, and about 10% to 15% of the population
will show greater than a 9-minute increase.
Carbenicillin –The most potent of the penicillin
group of antibiotics capable of affecting platelet
function.
Prolonged exposure to alcohol, in addition to

causing thrombocytopenia, imp. airs PF3 release
and reduces secondary aggregation.
DIET
• Populations whose diet contains significant
amounts of fish have decreased platelet function,
as demonstrated in aggregation studies.
• Another ethnic dietary component-an herb used
in Szechwan cooking-decreases the platelet
release reaction.
DISEASES
• Myeloproliferative disorders – frequently are
associated with large, hypogranular platelets,
which may be defective in any all functions
(adhesion, aggregation, release, or contraction)
• Uremia – is associated qualitative platelet defects
that can be corrected with dialysis.
• Some patients with uremia also exhibit defective
factor VIII:vWF complexes, especially the high-
molecular-weight polymers necessary for
adequate platelet adhesion.
• Disseminated intravascular coagulation
-affects platelets in many ways other than by
overt destruction. Prematurely activated platelets
may release granules, causing an acquired platelet
SPD.

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Qualitative Platelet Disorders

• Designates platelets that are qualitatively

• Refers to the sticking of platelets to any surface

• Lack the plasma protein that appears to link the platelet

- Ecchymosis frequently seen at birth or early in

• Platelets are normal in size and morphology and have a

• Abnormal release of ADP may be secondary to a lack of

Gray platelet syndrome

• The clinical picture and laboratory findings in the

Prolonged exposure to alcohol, in addition to

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