Bernard-Sulye's syndrome
Contents:
Description:
Bernard-Sulye's syndrome — the rare inherited disorder of function of thrombocytes which is characterized by defect of the GP lb membrane complex. As GP lb is the main receptor for Villebrand's factor,
Symptoms of the Syndrome of Bernard-Sulye:
At patients with Bernard-Sulye's syndrome the clinical picture reminds an angiohemophilia of moderate weight and is usually shown at infantile or early children's age. Functionally, as well as at BV, adhesion of thrombocytes to a vascular subendothelial matrix is broken. Though aggregation of thrombocytes under the influence of usual agonists is normal, the aggregation induced by Ristocetinum significantly is broken or in general is absent and does not korrigirutsya by addition of a normal factor of Villebrand. Thrombocytopenia (from weak to moderated) and increase in volume of the circulating thrombocytes belongs to other characteristic clinical features. Tendency to bleeding can be rather expressed and even to lead to death of certain patients, however at other patients disease severity weakens over time.
Reasons of the Syndrome of Bernard-Sulye:
Cause of illness — in disturbance of adhesion and aggregation of the thrombocytes caused by disturbance of formation of the membrane GPIb/IX/V complex.
Treatment of the Syndrome of Bernard-Sulye:
Treatment of similar inborn disturbances is usually not specific. Transfusions of thrombocytes for the purpose of temporary correction of hemorrhagic diathesis should be applied with care, considering risk of development of complications after hemotransfusions. Functions of thrombocytes are improved by desmopressin (the action mechanism is still not known) therefore purpose of this medicine is preferable to prevention or treatment of bleeding.
