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Bernard-Soulier Syndrome (Giant Platelet Syndrome)

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A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.

Also Known As:

Giant Platelet Syndrome; Deficiency of Platelet Glycoprotein 1b; Platelet Glycoprotein 1b, Deficiency of; Von Willebrand Factor Receptor Deficiency; Bernard Soulier Syndrome; Platelet Syndromes, Giant; Syndrome, Bernard-Soulier; Syndrome, Giant Platelet; Syndromes, Giant Platelet

Networked: 305 relevant articles (4 outcomes, 25 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombasthenia (Glanzmann Thrombasthenia)
2.	Acute Coronary Syndrome
3.	Angiodysplasia
4.	Peripheral Vascular Diseases (Peripheral Vascular Disease)
5.	Ischemia

Experts

1.	Kunishima, Shinji: 7 articles (09/2014 - 11/2002)
2.	Fabris, Fabrizio: 5 articles (09/2014 - 08/2008)
3.	Ghosh, Kanjaksha: 4 articles (03/2014 - 05/2005)
4.	Vettore, Silvia: 4 articles (11/2012 - 08/2008)
5.	Nurden, Paquita: 4 articles (09/2011 - 12/2002)
6.	Saito, Hidehiko: 4 articles (12/2006 - 11/2002)
7.	Kenny, D: 4 articles (02/2006 - 07/2000)
8.	Morel-Kopp, Marie-Christine: 3 articles (12/2015 - 09/2005)
9.	Bai, Xia: 3 articles (01/2015 - 09/2003)
10.	Montgomery, R R: 3 articles (10/2014 - 07/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bernard-Soulier Syndrome:

1.	platelet type Von Willebrand diseaseIBA 01/01/1995 - "The study of defects in the expression of the GPIb-V-IX complex at the platelet surface leading to pathological disorders, like Bernard-Soulier syndrome (BSS), or in the affinity of platelets for vWf, like pseudo-von Willebrand disease, has helped to delineate the binding site for vWf on GPIb alpha. " 11/01/1996 - "Furthermore, this model system simplifies existing methods for the assessment of the functional consequences of mutations in GpIb alpha as found in pseudo-von Willebrand disease and Bernard-Soulier syndrome." 10/01/1994 - "Genetic studies on patients with Glanzmann thrombasthenia, the Bernard-Soulier syndrome, and platelet-type von Willebrand disease have been confined to abnormalities of the GPIIb-IIIa and GPIb-IX receptor complexes. " 07/01/2011 - "Abnormalities of pathways involving glycoprotein (GP) mediators of adhesion (Bernard-Soulier syndrome, platelet-type von Willebrand disease) and aggregation (Glanzmann thrombasthenia) are the most studied and affect the GPIb-IX-V complex and integrin αIIbβ3, respectively. " 04/01/2000 - "Cases include seven patients with congenital platelet disorders [Glanzmann thrombasthenia (n = 5), Bernard-Soulier syndrome (n = 1), platelet type (pseudo-) von Willebrand disease (n = 1)] and two patients with acquired thrombocytopathy associated with myelodysplastic syndrome and uremia. "
2.	Octreotide (Sandostatin)FDA LinkGeneric 04/01/2005 - "Gastric angiodysplasia in a child with Bernard-Soulier syndrome: efficacy of octreotide in long-term management."
3.	LigandsIBA 10/01/2004 - "The method provides a quantitative assessment of the physical and antigenic properties of platelets (e.g., surface expression of receptors, bound ligands, components of granules, or interactions of platelets with other platelets, other blood cells, or components of the plasma coagulation system), thereby facilitating the diagnosis of inherited or acquired platelet disorders (e.g., Bernard-Soulier syndrome, Glanzmann thrombasthenia, storage pool disease), the pathological activation of platelets (e.g., in the setting of acute coronary syndromes, cerebrovascular ischemia, peripheral vascular disease, cardiopulmonary bypass), and changes in the ability of platelets to activate via specific stimuli (e.g., efficacy of antiplatelet therapies). "
4.	Glycoproteins (Glycoprotein)IBA 12/15/2010 - "GP (glycoprotein) αIIb and Ib-V were identified as putative Gal-8 counter-receptors by MS. Studies performed using platelets from Glanzmann's thromboasthenia and Bernard-Soulier syndrome patients confirmed that GPIb is essential for transducing Gal-8 signalling. " 01/01/2008 - "In this patient peripheral blood analyses and platelet aggregation studies revealed disease features shared with the Bernard-Soulier syndrome, but this syndrome was excluded by cellsurface glycoprotein analysis." 09/01/2003 - "[Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome]." 12/01/2002 - "A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies." 01/01/2014 - "Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation."
5.	Platelet Glycoprotein GPIb-IX Complex (Glycoprotein Ib)IBA 06/13/1988 - "We have, therefore, developed a sandwich-type enzyme-linked immunosorbent assay (ELISA) to study patients with the Bernard-Soulier syndrome (BSS), a hereditary platelet disorder characterized primarily, at the molecular level, by glycoprotein Ib (GpIb) deficiency. " 08/01/1987 - "A case of Bernard-Soulier syndrome: study of platelet glycoprotein Ib in a kindred." 09/01/2001 - "[A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient]." 01/01/2001 - "Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome." 09/01/2000 - "Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein ib alpha gene."
6.	Membrane Glycoproteins (Membrane Glycoprotein)IBA 11/01/2004 - "Bernard-Soulier Syndrome (BSS) is a severe congenital platelet disorder that results from a deficiency of the platelet membrane glycoprotein (GP) Ib/IX complex that is composed of four subunits (GPIbalpha, GPIbbeta, GPIX, and GPV). " 11/01/2001 - "A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form." 10/01/1993 - "Bernard-Soulier syndrome (BSS) platelets, which lack the membrane glycoprotein complex Ib-IX, do not adhere to subendothelium. " 04/01/1986 - "[Bernard-Soulier syndrome with special reference to platelet-membrane glycoprotein abnormalities]." 01/01/1984 - "The membrane glycoprotein (GP) Ib, which is thought to play an important role in adhesion, is missing in the Bernard Soulier Syndrome (BSS) and platelets in this syndrome have a structural defect which results in giant size on peripheral smear. "
7.	AntibodiesIBA 02/01/1994 - "A so-called pseudo Bernard-Soulier syndrome due to selective antibodies was also excluded. " 01/01/1988 - "By 51Cr release, platelets from two of three patients with the Bernard-Soulier syndrome (BSS) responded sub-normally to anti-PlE1, and the apparently normal response of platelets from the last BSS patient was attributable to anti-HLA-A2 antibodies in the proband serum. " 11/01/1979 - "They differ from PNH platelets in their insensitivity to immune lysis induced by drug-dependent antibodies and, in this respect, are similar to Bernard-Soulier syndrome platelets." 09/01/1978 - "Absence of the platelet receptor for drug-dependent antibodies in the Bernard-Soulier syndrome." 08/01/1992 - "Using antibodies against GPIb and GPIIb/IIIa, it has been possible to diagnose Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome (BSS). "
8.	Monoclonal AntibodiesIBA 07/01/1990 - "Use of different monoclonal antibodies with distinct epitope specificities appears to be essential for a correct identification of variant Bernard-Soulier syndrome." 01/01/1986 - "Bernard-Soulier syndrome: diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients." 04/01/1994 - "Studies of inhibition of the binding by a series of monoclonal antibodies to GPIb, GPIIb/IIIa and vWF and experiments performed using platelets from patients with Glanzmann thrombasthenia or Bernard-Soulier syndrome enabled to identify GPIIb/IIIa as the receptor of vWF. " 01/01/2003 - "Two patients diagnosed Epstein syndrome (ES), two with Bernard-Soulier syndrome (BSS) and eight with Mediterranean macrothrombocytopenia (MM) were studied using flow cytometry combined to monoclonal antibodies (MoAbs). " 10/17/1989 - "The platelet membrane protein involved in cross-linking was shown unequivocally to be GP Ib since (i) neither cross-linked species was formed with Bernard-Soulier syndrome platelets, which genetically lack the GP Ib-IX complex, (ii) both cross-linked species were specifically immunoprecipitated by anti-GP Ib polyclonal and monoclonal antibodies, and (iii) the formation of the cross-linked species was completely inhibited only by those anti-GP Ib-IX complex monoclonal antibodies that inhibited vWF-GP Ib-IX complex interaction. "
9.	Inosine Triphosphate (ITP)IBA 12/01/2009 - "We measured mean platelet volume (MPV) and mean platelet diameter (MPD), within 2 h of blood sampling, in 35 patients with inherited macrothrombocytopenias [15 MYH9-related disease (MYH9-RD), three biallelic and 17 monoallelic Bernard-Soulier syndrome (BSS)], and 56 with ITP. " 12/01/2007 - "We describe a child with Bernard-Soulier syndrome who presented with isolated thrombocytopenia, mimicking ITP. " 12/01/2007 - "The inherited thrombocytopenias such as Bernard-Soulier syndrome are rare but often misdiagnosed as ITP owing to a similar clinical presentation. " 04/01/2006 - "Recent studies have shown that heterozygous carriers of the bleeding disorder Bernard-Soulier syndrome are occasionally identified as isolated case of giant platelet disorder/macrothrombocytopenia or misdiagnosed with idiopathic thrombocytopenic purpura (ITP). " 01/01/1995 - "In a previous study the volume of blood obtained from bleeding time incisions was measured every 30 s from normal subjects (n = 15), patients with thrombasthenia (TSA, n=4), idiopathic thrombocytopenic purpura (ITP, n=4), von Willebrand's disease ((v)WD, n=3), Bernard-Soulier syndrome (BSS, n = 2), and δ and αδ-storage pool deficiencies (SPD, n=4 and 5, respectively) and the experimental results analyzed by empirical curve-fitting of the data. "
10.	von Willebrand FactorIBA 09/01/2014 - "Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). " 03/01/2011 - "Bernard-Soulier syndrome is a severe bleeding disease due to a defect of GPIb/IX/V, a platelet complex that binds the von Willebrand factor. " 06/01/2009 - "Giant platelets and thrombocytopenia are invariable defects in the Bernard-Soulier syndrome caused by deficiency of the GPIb-V-IX complex, a receptor for von Willebrand factor supporting platelet adhesion to the damaged arterial wall. " 12/01/1994 - "Bernard-Soulier syndrome is a rare, congenital bleeding disorder caused by absent or defective GP Ib platelet membrane receptor for the von Willebrand factor (vWF). " 07/01/1990 - "These studies define a distinct variant form of Bernard-Soulier syndrome and provide evidence, based on a naturally occurring mutant molecule, that the amino-terminal region of GP Ib alpha contains a von Willebrand factor-binding domain distinct from the high affinity thrombin-binding site. "

Therapies and Procedures

1.	Stem Cell Transplantation 01/01/2006 - "Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome."
2.	Cardiopulmonary Bypass (Heart-Lung Bypass) 10/01/2004 - "The method provides a quantitative assessment of the physical and antigenic properties of platelets (e.g., surface expression of receptors, bound ligands, components of granules, or interactions of platelets with other platelets, other blood cells, or components of the plasma coagulation system), thereby facilitating the diagnosis of inherited or acquired platelet disorders (e.g., Bernard-Soulier syndrome, Glanzmann thrombasthenia, storage pool disease), the pathological activation of platelets (e.g., in the setting of acute coronary syndromes, cerebrovascular ischemia, peripheral vascular disease, cardiopulmonary bypass), and changes in the ability of platelets to activate via specific stimuli (e.g., efficacy of antiplatelet therapies). "
3.	Hematopoietic Stem Cell Transplantation 01/07/2003 - "Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome." 10/01/2014 - "Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome."
4.	Platelet Transfusion (Blood Platelet Transfusions) 07/01/2012 - "Glanzmann thrombasthenia (GT) or Bernard-Soulier syndrome (BSS), platelet transfusion is frequently needed for controlling spontaneous bleeding, and is always needed when trauma occurs or surgery is performed. " 09/01/2004 - "Briefly, perioperative and anesthetic management of patients with Bernard-Soulier syndrome should include platelet transfusions and choice of appropriate anesthetic drugs and techniques. "
5.	Coronary Artery Bypass (Coronary Artery Bypass Surgery) 07/01/2010 - "We describe the strategy for a patient with Bernard-Soulier syndrome undergoing successful coronary artery bypass grafting." 05/01/1992 - "A patient with Bernard-Soulier syndrome is described who developed coronary artery atherosclerosis and unstable angina requiring coronary artery bypass grafting. "