Bernard-Soulier syndrome

(redirected from Bernard-Soulier disease)
Also found in: Wikipedia.

Ber·nard-Sou·li·er syn·drome

(bār-nahr' sūl-yā'),
1. a coagulation disorder characterized by thrombocytopenia, giant platelets, and a bleeding tendency.
2. an autosomal recessive disorder of absent or decreased platelet membrane glycoproteins Ib, IX, and V (the receptor for factor VIII R). This deficiency can lead to a failure to bind von Willebrand factor, causing moderate bleeding.

Bernard-Soulier syndrome

[bernär′soo͡lyā′]
Etymology: Jean A. Bernard, French hematologist, b. 1907; Jean-Pierre Soulier, French hematologist, b. 1915
an autosomal-recessive bleeding disorder characterized by an absence of or a deficiency in the ability of the platelets to adhere to von Willebrand factor because of the relative lack of membrane glycoprotein Ib/V/IX. On microscopic examination the platelets appear large and gray. The use of aspirin may provoke hemorrhage. After trauma or surgery, loss of blood may be greater than normal and a transfusion may be required.

Bernard-Soulier syndrome

An autosomal recessive MIM 231200 or codominant condition, with mucocutaneous and visceral haemorrhage due to deficiency of glycoprotein Ib, the receptor for von Willebrand factor (vWF), and GP1s (glycocalicin); both are involved in the interaction between vWF and platelet membrane, which is critical for normal platelet adhesion in the early phases of primary hemostasis.
 
Clinical findings
Major mucocutaneous haemorrhage of early onset, including epistaxis, ecchymoses/purpura, nosebleeds, gingival, GI and menorrhagia, and bleeding after minor trauma.
 
DiffDx
ITP, giant-platelet syndrome, May-Hegglin anomaly, Epstein syndrome, Montreal syndrome, platelet-type von Willebrand syndrome (pseudo-von Willebrand’s disease with macrothrombocytopenia).
 
Lab
Variable thrombocytopenia, morphologically abnormal giant platelets on peripheral blood smears, defective prothrombin consumption, increased bleeding time due to poor platelet adhesion to subendothelium, no platelet aggregation with ristocetin Platelet defects, increased size of basophilia of membrane, aggregation (or absence) of cytoplasmic granules, pseudopod formation, and cytoplasmic vacuolisation.
 
Molecular pathology
Caused by a mutation of GP9 on chromosome 3q21.3.

Management
Avoid aspirin, anti-inflammatories or other prohemorrhagic agents.

Bernard-Soulier syndrome

Congenital hemorrhagic thrombocytic dystrophy Hematology An AR or codominant condition with mucocutaneous and visceral hemorrhage due to deficiency of glycoprotein Ib, the receptor for von Willebrand factor–vWF, and GP1's—glycocalicin, both are involved in the interaction between vWF and platelet membrane, which is critical for normal platelet adhesion in the early phases of 1º hemostasis Clinical Major mucocutaneous hemorrhage of early onset including epistaxis, ecchymoses/purpura, nosebleeds, gingival, GI, and menorrhagia, and bleeding after minor trauma DiffDx ITP, giant platelet syndrome, May-Hegglin anomaly, Epstein syndrome, Montreal syndrome, platelet-type von Willebrand syndrome–pseudo-von Willebrand's disease with macrothrombocytopenia Lab Variable thrombocytopenia, morphologically abnormal giant platelets on peripheral blood smears, defective prothrombin consumption ↑ bleeding time due to poor platelet adhesion to subendothelium, no platelet aggregation with ristocetin Platelet defects ↑ size, basophilia of membrane, aggregation–or absence of cytoplasmic granules, pseudopod formation, and cytoplasmic vacuolization Prevention Avoid aspirin, anti-inflammatories or other prohemorrhagic agents. Cf Glanzmann's thrombasthenia.

Bernard,

Jean, 20th century French physician.
Bernard-Soulier syndrome - a coagulation disorder characterized by thrombocytopenia, giant platelets, and a bleeding tendency.

Soulier,

Jean Pierre, French hematologist, 1915-1985.
Bernard-Soulier syndrome - see under Bernard, Jean
References in periodicals archive ?
In von Willebrand disease, Glanzmann thrombasthenia, and myeloproliferative disorders, the platelets have typical morphologic features, whereas giant platelets are seen in Bernard-Soulier disease and other macrothrombocytopenia syndromes.
Bernard-Soulier disease is a congenital deficiency of the platelet glycoprotein Ib[alpha]/Ib[beta]/IX/V receptor, the surface receptor for VWF-mediated platelet aggregation.
The pathogenesis and molecular defects of many primary thrombocytopathies are well known and relate to defects in structural or functional glycoproteins, such as the abnormal expression of gpIIb/IIIa in Glanzmann thrombasthenia and gpIb in Bernard-Soulier disease (8994).