BERNARD-SOULIER SYNDROME - CLINICAL-SIGNI FICANCE OF A RARE BLEEDING DISORDER

We present 5 cases with thrombocytopenia and abnormal platelet functio n. The diagnosis of Bernard-Soulier syndrome was suspected in some sub jects of advanced age on the ground of morphologic changes in the thro mbocytes and of low platelet counts with or without prolonged bleeding time. The platelets showed normal aggregation with adrenalin, ADP and collagen but abnormal agglutination with ristocetine. All patients ha d normal von Willebrand factor levels in plasma. Flow cytometry demons trated on thrombocytes lack of GP Ib expression of varying degree in c omparison to normal controls, using various anti-GP Ib-antibodies (CD4 2b). The combination of these findings confirmed the diagnosis of Bern ard-Soulier syndrome with varying expression of GP Ib. Flow cytometry and the use of specific monoclonal antibodies may be a rapid and relia ble diagnostic tool. Differential diagnosis and treatment strategies a re discussed. A congenital thrombopathy should always be considered in patients with thrombocytopenia of unknown origin and abnormal platele t morphology.