Glycoproteins can serve as a bridge that connects platelets to each other. Bernardsoulier disease giant platelet syndrome center. Abstract bernard soulier syndrome is an inherited platelet disorder, which is transmitted in an autosomal recessive manner. Bernard soulier syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is an extremely rare genetic disorder that is characterized by the absence of glycoprotein which is vital to clot formation. Alteraciones congenitas patologia patologia mecanismo afectacion funcional prevalencia diatesis s. Bernardsoulier syndrome an inherited platelet disorder 2. Bernard soulier syndrome bss, is a rare inherited bleeding disorder affecting the megakaryocyteplatelet cell line. The initial discovery was made by 2 frenchhematologists namely jean bernard and jeanpierre soulier, and hence named thedisease accordingly1. The symptoms of bernard soulier syndrome include postoperative bleeding, easy bruising, and bleeding gums. Bernard soulier syndrome is usually treated with medications that promote clotting, but can also be treated with a platelet transfusion. Bernardsoulier syndrome genetics home reference nih. Bernard soulier syndrome clinical aspects introduction. It is typically characterized by an increased bleeding tendency, giant platelets and thrombocytopenia. Pdf bernardsoulier syndrome hemorrhagiparous thrombocytic.
Renelevesque ouest bureau 1200 montreal, quebec h3g 1t7 canada telephone. The proteins produced from these genes are pieces subunits of a protein complex called glycoprotein gpibixv. As causas, sintomas, diagnostico, tratamentos bernardsoulier. Glycoproteins are one of the many proteins that help platelets work well to plug holes in damaged blood vessels and start the process of making a blood clot. This syndrome is extremely rare as only 100 cases have been reported in the literature. Bernard soulier syndrome, gpibixv complex, gpib, mutation. The symptoms of bernard soulier syndrome include postoperative bleeding, easy. Bernard soulier syndrome is a very rare autosomal recessive disorder of impaired clotting. Bernardsoulier syndrome bss is an inherited, usually autosomal recessive, platelet bleeding abnormality, characterized by a prolonged bleeding time, large. Bernardsoulier disease definition of bernardsoulier.
Bernard soulier syndrome an inherited bleeding disorder 12 alwayswearahelmetwhen doingphysicalactivitiessuchas ridingabicycleorskiing. They described a patient from a consanguineous family afflict. Bernard soulier syndrome bss is a rare hereditary bleeding disorder. People with bernard soulier syndrome tend to bruise easily and have. Certain cases could manifest with postprocedural bleeding. There is no cure for bernard soulier syndrome, but symptoms sometimes subside as the person gets older. Bernard soulier syndrome bss, also known as hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyteplatelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. Epistaxis, cutaneous hemorrhage, pronounced posttraumatic bleeding, and severe menorrhagia are typically encountered. Bernard soulier syndrome clinical aspects the university. The incidence of bss is estimated to be less than 1 case per million persons, based on cases reported from europe, north america, and japan. Bernard soulier syndrome bss was first discovered in 1948.
Bernard soulier syndrome an inherited bleeding disorder an information booklet bernard soulier syndrome. Bernard soulier syndrome, an inherited disorder associated with a pronounced bleeding tendency, is due to a deficiency of glycoprotein ib, also necessary for normal platelet function, on the platelet membrane. Bernard soulier disease is a rare inherited bleeding disorder caused by a defect in the platelet glycoprotein complex 1bixv. Bernardsoulier syndrome bss was first recognized in 1948 by two french hematologistsjean bernard and jean pierre soulier. Genetic heterogeneity of platelettype bleeding disorders inherited platelet disorders. Bernard soulier syndrome bss, also known as hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyteplatelet lineage and characterized by bleeding. Jan 17, 2017 brain foods for brain health boost brain health with good eats duration. Bernard soulier syndrome characteristically is defined by the presence of giant platelets and thrombocytopenia. Depending on the phenotype, patients present with bleeding episodes of variable severity. This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. Enable javascript to view the expandcollapse boxes. Bernard soulier syndrome may be classified into 4 subtypes. Bernardsoulier syndrome nord national organization for. Gp ib is composed of 4 subunits encoded by 4 separate genes.
Bernard soulier syndome also called giant platelet syndrome is a disorder of platelet function. Bernardsoulier syndrome bss, is a rare autosomal recessive bleeding disorder that is. Sep, 2018 bernard soulier syndrome bss was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. Other articles where bernard soulier syndrome is discussed. The disorder was recognized to be familial and inherited in an autosomal recessive manner. Bernardsoulier syndrome hemorrhagiparous thrombocytic. Bernard soulier syndrome is a rare autosomal recessive bleeding disorder characterized by a normal or low platelets count, the presence of giant platelets, and a prolonged bleeding time.
In affected individuals, platelets are unusually large and fewer in number than usual a combination known as macrothrombocytopenia. Bernard soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. Pdf bernard soulier syndrome bss is a rare inherited bleeding disorder caused by a quantitative or qualitative defect in glycoprotein gpib ixv. May 06, 2012 bernard soulier syndrome bssintroduction. Une maladie plaquettaire hereditaire caracterisee par une tendance aux saignements leger a severes, une. The bernard soulier syndrome is an autosomal recessive disorder in which most patients have a decrease to absence of all four members of the. Bernard soulier syndrome bss belongs to one the rare hereditary platelet disorders. It is primarily differentiatedby means of thrombocytopenia and presence of large. Recent estimates suggest that bernard soulier syndrome affects 1 in a million people. A study of bernard soulier syndrome in tehran, iran. Les saignements importants surviennent au cours des interventions chirurgicales.
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