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Old 06-21-2011
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Hematology 18-year-old woman with gingival bleeding and heavy menstruation...

An 18-year-old girl is referred to her family physician by her dentist after an annual dental checkup. The dentist reports unusually large gingival bleeding during the visit despite no other evidence of poor dental hygiene. Review of her past medical history reveals multiple episodes of epistaxis that occurred for prolonged periods. Her menses have always been heavy and she requires 15 to 20 super-absorbant pads over a 10- to 12-day period. She does not take any regular medications and has been otherwise well. Examination reveals petechiae over the forearms and anterior legs. Laboratory investigation shows the following:
Erythrocyte count 4.2 million/mm3
Hemoglobin (Hb) 14.2g/dL
Hematocrit 41%
Mean corpuscular volume 88 μm3
Mean corpuscular Hb 32.2 pg/cell
Platelet count 125,000/mm3
Prothrombin time 12 seconds
Partial thromboplastin time (activated) 29 seconds
Bleeding time 14 minutes
Leukocyte count 5700/mm3
Blood film Normal-appearing erythrocytes, leukocytes; occasional megathrombocytes
Aggregometry is performed and the following results are obtained:
Agonist Response
Epinephrine Normal aggregation
Adenosine 5c-diphosphate Normal aggregation
Collagen Normal aggregation
Arachidonic acid Normal aggregation
Ristocetin Absent aggregation
Normal plasma Absent aggregation

Answer Choices
A. Bernard-Soulier syndrome
B. Chediak-Higashi syndrome
C. Drug-induced platelet dysfunction
D. Glanzmann thrombasthenia
E. Gray platelet syndrome
F. Hermansky-Pudlak syndrome
G. Idiopathic thrombocytopenic purpura
H. Storage pool disease
I. Thrombotic thrombocytopenic purpura
J. Von Willebrand disease (vWD)
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Old 06-21-2011
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J. Von Willebrand disease (vWD)
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Old 06-22-2011
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Option A (Bernard-Soulier syndrome) is correct. This patient has Bernard-Soulier syndrome, a congenital bleeding disorder caused by deficient or absent glycoprotein (GP) Ib. This platelet receptor binds von Willebrand factor (vWF). Consequently, it presents in the same fashion as vWF except for three features: a mild thrombocytopenia, enlarged platelets, and absent aggregation when normal plasma is added on aggregometry. Absent aggregation occurs when normal plasma is added, because the receptor is faulty, as compared to vWD where the factor is missing.

High-yield Hit 1
Inherited qualitative platelet defects include abnormalities of platelet receptors and granules. Two rare but well-characterized platelet receptor disorders are Bernard-Soulier syndrome and Glanzmann's thrombasthenia. Bernard-Soulier syndrome is caused by decreased surface expression of platelet GPIb (the primary vWF receptor) and more rarely by diminished GPIb function. The syndrome is characterized by mild thrombocytopenia, increased bleeding time, large platelets, and a mild to moderate bleeding disorder. The diagnosis is usually made in children, but occasionally the condition may not be manifest until adulthood. Laboratory testing for Bernard-Soulier syndrome shows an absent platelet aggregation response to ristocetin (see Table 52-4) despite adequate vWF levels and vWF function, such as normal ristocetin cofactor (Rcof) activity. Glanzmann's thrombasthenia is characterized by an increased bleeding time and abnormally low levels of expression of platelet GPIIb/IIIa (the receptor for both vWF and fibrinogen) or, more rarely, normal expression but absent GPIIb/IIIa function. Patients commonly present with bleeding in childhood. Platelet aggregation testing in Glanzmann's thrombasthenia shows absent or diminished response to all agonists except ristocetin (see Table 52-4). Platelet transfusions correct the bleeding in both Bernard-Soulier syndrome and Glanzmann's thrombasthenia. However, because of the high risk of alloimmunization with frequent platelet transfusions, this therapy should be used sparingly.

From Cecil Essentials of Medicine 6E by Andreoli et al
High-yield Hit 2
Inherited platelet granule disorders are defined by the type of granule that is absent or defective. Storage pool disease is characterized by a relative decrease or absence of dense granules and correspondingly moderate to severe mucosal bleeding. Because of the defect in dense granules, release of granule constituents that recruit and activate platelets is impaired. Thus storage pool disease is characterized by a diminished or absent secondary wave aggregation in response to most agonists (see Table 52-4). Hermansky-Pudlak syndrome is a similar dense granule deficiency associated with oculocutaneous albinism and mild thrombocytopenia. Patients have significant bleeding, which may occur spontaneously but more often in association with surgical procedures. Chédiak-Higashi syndrome is a general granule disorder characterized by mild bleeding, partial albinism, and recurrent pyogenic infections. Gray platelet syndrome is characterized by colorless or gray platelets that lack normal staining on the peripheral smear; electron microscopy confirms the loss of alpha granules and/or their contents. Patients with gray platelet syndrome have a mild bleeding history, and aggregation testing exhibits diminished responses to epinephrine, ADP, and collagen. All the platelet granule disorders are successfully treated by avoidance of aspirin and other antiplatelet drugs, by hormonal control of menses in women, and, when bleeding occurs, by platelet transfusions.
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Old 06-22-2011
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Easy..just have to look at the blood aggregation studies....
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Hematology-, Internal-Medicine-, Step-2-Questions

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