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Platelet Disorders Douglas Triplett
Published in Genesio Murano, Rodger L. Bick, Basic Concepts of Hemostasis and Thrombosis, 2019
The laboratory findings in Bernard-Soulier syndrome include: giant platelets on peripheral smear, decreased platelet retention in glass-bead columns, abnormal ristocetin-induced aggregation that is not corrected by the addition of normal platelet-poor plasma, and a prolonged bleeding time disproportionate to the mild thrombocytopenia. The remainder of the aggregation studies in these patients are characteristically normal, as are the clot retraction and platelet factor 3 assays.
B
Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Bernard-Soulier Syndrome An autosomal recessive trait causing prolonged bleeding time and thombocytopenia with abnormal platelets. Described by French physician J. Bernard (b 1907) and a hematologist, J.P. Soulier (b 1915) of Paris, in 1948. Soulier obtained the blood fraction for treating factor IX deficiency.
Case 67
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
This patient suffers from the May–Hegglin anomaly, a rare, dominantly inherited disorder which runs a benign course. Bleeding manifestations are rare and platelet function studies are essentially normal. Bernard–Soulier syndrome is an autosomal recessive or codominant trait also associated with giant platelets and thrombocytopenia; but there are no neutrophil inclusions, bleeding manifestations are common and platelet membranes lack glycoprotein Ib and fail to aggregate in response to ristocetin.
Murine models of glycoprotein Ib-IX
Published in Platelets, 2022
The Bernard–Soulier syndrome was originally described more than 70 years ago as a severe bleeding phenotype with the peculiar appearance of “giant” platelets that could be as large of circulating erythrocytes [1,2]. In addition, the Bernard–Soulier syndrome was associated with a mild thrombocytopenia, which along with the giant platelet phenotype, led to a common reference of the disorder as one of several with “macrothrombocytopenia.” The association of the platelet glycoprotein (GP) Ib-IX complex with the Bernard–Soulier syndrome would be made 25 years later with a detailed protein characterization and recognition that platelets from individuals with the Bernard–Soulier syndrome were missing the protein subunits that comprise the GPIb-IX complex [3]. At the time, the GPIb-IX complex was associated with platelet adhesion although the exact ligand was not fully characterized because the recognition of VWF and the coagulation factor VIII as distinct entities would not become established until the mid-1980 s [4–6]. While bleeding associated with the Bernard–Soulier syndrome could be explained by the inability of platelet to agglutinate in the presence of ristocetin, the macrothrombocytopenia associated with the Bernard–Soulier syndrome had led to speculation that other linked mutations might be the molecular basis of the giant platelet phenotype. This was supported by the seemingly unrelated macrothrombocytopenic disorders not associated with a dysfunctional GPIb-IX complex [7–9]. Thus, the molecular basis of the macrothrombocytopenic phenotype associated with the Bernard–Soulier syndrome remained unresolved.
A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation
Published in Platelets, 2022
Caitlin Dunstan-Harrison, Ian M. Morison, Elizabeth C. Ledgerwood
Disorders in platelet formation and activity arise due to variants in a wide range of genes with both dominant and recessive inheritance patterns. Bernard–Soulier syndrome (BSS), the first such condition to be described, is a rare autosomal recessive disorder characterised by macrothrombocytopenia and impaired platelet aggregation, leading to severe bleeding [1,2]. BSS occurs due to homozygous or compound heterozygous variants in the genes GP1BA, GP1BB and GP9 that encode the GPIbα, GPIbβ and GPIX subunits, respectively, of the platelet von Willebrand factor (vWF) receptor complex GPIb-IX-V. The most common forms of autosomal dominant macrothrombocytopenia are caused by heterozygosity for pathogenic variants in these same genes, with the subjects now referred to as heterozygous carriers of BSS-related mutations [3]. These subjects have a mild or absent bleeding phenotype, normal platelet aggregation and mildly reduced platelet counts [3,4].
Recurrent melena in a diagnosed case of Bernard Soulier syndrome
Published in Journal of Community Hospital Internal Medicine Perspectives, 2021
Omair Ali Khan, Sheharyar Raashid, Sohaib Asghar, Ramsha Majeed, Mahnoor Fatima Sherazi, Fakeha Nayyer, Aisha Anis, Zainab Ehsan
Bernard Soulier syndrome is a congenital bleeding disorder caused by platelet dysfunction. Its inheritance is typically of an autosomal recessive pattern although rare cases following an autosomal dominant pattern due to mutations in the GP1BA or GP1BB gene have also been seen [1]. It is characterized by an impairment of platelet adhesive function via a defect in the glycoprotein Ib/IX complex that binds endothelial VWF. It has a reported prevalence of one in one million individuals, and about 200 cases have been reported [2]. The condition was first described in 1948 by two French hematologists, Jean Bernard and Jean Pierre Soulier who had described a male patient with a bleeding defect characterized by increased bleeding time, thrombocytopenia and appearance of megakaryocytes. Hemorrhagiparous thrombocytic dystrophy (Dystrophie thrombocytaire-hémorragipare congénitale) was the name given to the disorder by them [3]. In this syndrome, thrombocytopenia is observed with abnormally large and functionally impaired platelets. The clinical manifestations are diverse and include purpura, epistaxis, menorrhagia, gingival and gastrointestinal bleeding, hematuria or hematoma [4].