title: [Bernard-Soulier thrombocytopenia: clinical significance of a rare disorder].
abstract: We present 5 cases with thrombocytopenia and abnormal platelet function. The diagnosis of Bernard-Soulier syndrome was suspected in some subjects of advanced age on the ground of morphologic changes in the thrombocytes 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 had normal von Willebrand factor levels in plasma. Flow cytometry demonstrated on thrombocytes lack of GP Ib expression of varying degree in comparison to normal controls, using various anti-GP Ib-antibodies (CD42b). The combination of these findings confirmed the diagnosis of Bernard-Soulier syndrome with varying expression of GP Ib. Flow cytometry and the use of specific monoclonal antibodies may be a rapid and reliable diagnostic tool. Differential diagnosis and treatment strategies are discussed. A congenital thrombopathy should always be considered in patients with thrombocytopenia of unknown origin and abnormal platelet morphology.
authors.affiliation: Departement Innere Medizin, Universitätskliniken, Kantonsspital Basel.
authors.forename: D
authors.initials: D
authors.lastname: Gengenbacher
authors.forename: D A
authors.initials: DA
authors.lastname: Tsakiris
authors.forename: A
authors.initials: A
authors.lastname: Tichelli
authors.forename: G A
authors.initials: GA
authors.lastname: Marbet
authors.forename: A
authors.initials: A
authors.lastname: Gratwohl
authors.forename: B
authors.initials: B
authors.lastname: Speck
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000150:complications* / Q000209:etiology; D001760:Bleeding Time; D001792:Blood Platelets / Q000737:chemistry; D005260:Female; D005434:Flow Cytometry; D006023:Glycoproteins / Q000097:blood; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D010974:Platelet Aggregation; D010976:Platelet Count; D013921:Thrombocytopenia / Q000097:blood / Q000209:etiology*
chemical_list: D006023:Glycoproteins