A VERY RARE CONGENITAL BLEEDIND DISORDER-BERNARD SOULIER SYNDROME, FOUND IN A FAMILY IN MACEDONIA
Abstract number: P-T-226
Stankovic1 S.G., Ivanovski1 M., Stojanovic1 A.
1Department of Hematology, Clinical centre, Skopje, The former Yugoslav Republic of Macedonia
How-to-cite Stankovic SG, Ivanovski M, Stojanovic A. A VERY RARE CONGENITAL BLEEDIND DISORDER-BERNARD SOULIER SYNDROME, FOUND IN A FAMILY IN MACEDONIA. J Thromb Haemost 2007; 5 Supplement 2: P-T-226
Bernard-Soulier syndrome (BSS) is a rare hereditary autosomal bleeding disorder characterized by prolonged bleeding time, giant platelets and thrombocytopenia. The disease is due to an absence or abnormality of the platelet membrane glycoprotein (GP) Ib-IX-V, the receptor for von Wilebrand factor.
Methods: We present a case of a 30-year old female patient with bleeding problems from her early childhood. Initially she was treated as idiopathic thrombocytopenic purpura and then as Morbus VonWilebrand.When her bleeding problems worsened with massive genitourinary hemorrhage and epystaxis, more extensive investigations were done.
Results: BSS was suspected on the ground of morphologic changes of platelets: evidence of giant platelets on peripherial blood smear. The platelet count was about 40x10(9)/l, the bleeding time was prolonged. The platelet functional tests showed normal agglutination with ADP but abnormal agglutination with ristocetin. The plasma level of vWillebrand factor was normal. Blood samples from the patient and several members of her family were sent in Hopital Henri Mondor, Creteil in Paris, where the diagnosis of BSS was confirmed. The immunoelectron microscopic study of the platelets had shown: normal level of vWilebrand factor in alpha granules, normal GPII-b III-a expression and distribution, profound decrease of GP I-b IX immunolabeling, virtually absent from platelet plasma membrane. The ultra structural examination confirmed the uniformly large size of platelets. Any further therapies, predominantly corticosteroids were stopped in this patient.
Conclusions: Thorough investigations are always needed for making an accurate diagnosis of a bleeding problem. BSS is a rare congenital condition where we don't have many treatment options except substitution with platelet's concentrates in case of a severe bleeding episode.
References: 1. Lopez AJ. et all.Bernard Soulier Syndrome review article. Blood 1998;91:4397-4418.
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Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number
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