Bernard-Soulier Syndrome (Giant Platelet Syndrome)

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

Networked: 350 relevant articles (4 outcomes, 27 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.	Ware, Jerry: 4 articles (08/2022 - 09/2002)
4.	Nurden, Alan T: 4 articles (07/2014 - 02/2008)
5.	Ghosh, Kanjaksha: 4 articles (03/2014 - 05/2005)
6.	Vettore, Silvia: 4 articles (11/2012 - 08/2008)
7.	Nurden, Paquita: 4 articles (09/2011 - 12/2002)
8.	Saito, Hidehiko: 4 articles (12/2006 - 11/2002)
9.	Kenny, D: 4 articles (02/2006 - 07/2000)
10.	Rivera, José: 3 articles (12/2019 - 11/2016)

Drugs and Biologics

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

1.	LigandsIBA 11/01/1996 - "Within the spectrum of Bernard-Soulier syndrome, this patient's disorder exemplifies a severe or "classic" extreme; an "experiment of Nature" that illustrates the effect of a complete deficiency of the ligand-binding chain (GPIb alpha) of the GPIb-V-IX receptor." 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). " 12/01/2014 - "Glycoprotein (GP) Ibα is the ligand-binding subunit of the platelet GPIb-IX-V receptor complex; its deficiency causes the Bernard-Soulier syndrome (BSS), characterised by absent platelet GPIb-IX-V, macrothrombocytopenia and bleeding. "
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.	Hemoglobins (Hemoglobin)IBA 01/01/2021 - "We herein present three cases of patients with IDA related to Glanzmann thrombasthenia and Bernard-Soulier syndrome, who have been successfully treated with FCM with increase in hemoglobin levels, reduced hospital visits and improvement in quality of life."
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." 01/01/2023 - "Bernard Soulier Syndrome (BSS) is a rare autosomal recessive disorder due to deficiency or dysfunction of the glycoprotein GPIb-V-IX complex on the platelet surface. "
5.	Platelet Membrane GlycoproteinsIBA 08/01/1987 - "A case of Bernard-Soulier syndrome: study of platelet glycoprotein Ib in a kindred." 05/01/2021 - "Our group also accidentally discovered that platelet glycoprotein (GP) Ibα is required for platelet-mediated TPO generation, which is underscored in both GPIbα-/- mice and patients with Bernard-Soulier syndrome. " 01/01/2020 - "Disruption of protein folding or inter-subunit interactions in the platelet glycoprotein (GP)Ib-IX complex leads to its abnormally low expression in the plasma membrane, the hallmark of Bernard-Soulier syndrome (BSS). " 11/01/2016 - "Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). " 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). "
6.	Proteins (Proteins, Gene)FDA Link 09/01/2009 - "We demonstrated that the novel deletion mutation resulted in complete defectiveness of the GPIbalpha protein and null expression of the entire GPIb/IX complex, and was responsible for the Bernard-Soulier syndrome phenotype in this patient. " 09/01/2004 - "A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome." 07/01/1998 - "Thus, this newly described compound heterozygous defect produces Bernard-Soulier syndrome by a combination of synthesis of a nonfunctional protein and of a truncated protein that fails to insert into the platelet membrane and is found circulating in plasma." 09/01/1996 - "Molecular defects in the Bernard-Soulier syndrome: assessment of receptor genes, transcripts and proteins." 10/01/1980 - "Platelet membranes were more active than intact platelets on the basis of protein content, whereas platelets from a patient with Bernard-Soulier syndrome were inactive. "
7.	Platelet Glycoprotein GPIb-IX Complex (Glycoprotein Ib)IBA 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." 07/15/2000 - "Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome." 09/15/1999 - "Phenotypic consequence of the gene abnormality in the platelet glycoprotein IX gene observed in a patient with Bernard-Soulier syndrome through mammalian cell expression system."
8.	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." 11/01/2020 - "Membrane labeling with antibodies to CD42a or CD41, respectively, useful to assess the genetic-related defects of Glanzmann thrombocytopenia and Bernard Soulier syndrome are then described. "
9.	Monoclonal AntibodiesIBA 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). " 07/01/2003 - "The pathway must be dependent on GPIb because it is deficient in platelets from a patient with Bernard Soulier syndrome and inhibited by a monoclonal antibody to GPIb (SZ2) or by an excess of glycocalicin. " 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."
10.	Inosine Triphosphate (ITP)IBA 01/01/2020 - "Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have been diagnosed and treated as ITP for a long time. " 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). "

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.	Therapeutics 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.	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). "
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. " 12/11/2019 - "Platelet transfusions can fail to prevent bleeding in patients with inherited platelet function disorders (IPDs), such as Glanzmann's thrombasthenia (GT; integrin αIIbβ3 dysfunction), Bernard-Soulier syndrome [BSS; glycoprotein (GP) Ib/V/IX dysfunction], and the more recently identified nonsyndromic RASGRP2 variants. " 10/01/2018 - "For factor deficiencies in which no specific concentrate is available, such as factors II (prothrombin) and V, prothrombin complex concentrate or fresh frozen plasma may be used, and for platelet defects or deficiencies, such as Glanzmann thrombasthenia or Bernard-Soulier syndrome, platelet transfusion is generally first line, although use of recombinant FVIIa has been reported in patients with Glanzmann thrombasthenia to avoid development of, or treat patients with, antibodies to platelet glycoprotein IIbIIIa. "
5.	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."