How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults

Grainger, John D.; Thachil, Jecko; Will, Andrew

doi:10.1111/bjh.15409

Cited by 79 publications

(87 citation statements)

References 78 publications

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“…The management must be tailored for each individual and for different events for the same patient [7]. Use of platelet concentrates can be employed to stop active bleeding or to prevent it during a surgical intervention with a high haemorrhagic risk.…”

Section: Discussionmentioning

confidence: 99%

Bernard-Soulier Syndrome in Pregnancy: A Case Report

Perez¹,

Filho²,

Pazinato³

et al. 2019

OJOG

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Background: Bernard-Soulier Syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder of platelet function. Pregnancy in BSS is associated with a high risk of serious bleeding for both mother and neonate, and current data show no consensual approach. Aim: To report the case of a pregnant woman with BSS, in order to provide more information about management of these cases. Case Presentation: This case report describes a successful pregnancy outcome in a woman with BSS who was closely monitored throughout pregnancy and postpartum period, and had a judiciously planned birth. Conclusion: Management of BSS during pregnancy is still unclear. However, it is important to strictly control platelet counts and plan the birth in advance.

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Section: Discussionmentioning

confidence: 99%

Bernard-Soulier Syndrome in Pregnancy: A Case Report

Perez¹,

Filho²,

Pazinato³

et al. 2019

OJOG

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“…Bleeding is treated with platelet transfusions or rFVIIa. 6 The development of antiplatelet alloantibodies is a major risk of platelet transfusions occurring in approximately 30% of all patients, but much higher (up to 80%) in patients with a complete α IIb β 3 deficiency. 7 Allogenic bone marrow transplantation is curative, including for patients with alloantibodies, supporting the rationale for gene therapy.…”

Section: Glanzmann Thrombastheniamentioning

confidence: 99%

“…Inherited bleeding disorders are a heterogeneous group of genetic diseases that cause spontaneous and/or excessive hemorrhage after trauma. [1][2][3][4][5][6][7][8] Several features of these diseases make them amenable to gene therapy. Foremost, they are mostly well-defined monogenic disorders with a clear genotype-phenotype relationship.…”

mentioning

confidence: 99%

Gene Therapy for Inherited Bleeding Disorders

Arruda

Weber

Samelson-Jones

2021

Semin Thromb Hemost

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Decades of preclinical and clinical studies developing gene therapy for hemophilia are poised to bear fruit with current promising pivotal studies likely to lead to regulatory approval. However, this recent success should not obscure the multiple challenges that were overcome to reach this destination. Gene therapy for hemophilia A and B benefited from advancements in the general gene therapy field, such as the development of adeno-associated viral vectors, as well as disease-specific breakthroughs, like the identification of B-domain deleted factor VIII and hyperactive factor IX Padua. The gene therapy field has also benefited from hemophilia B clinical studies, which revealed for the first time critical safety concerns related to immune responses to the vector capsid not anticipated in preclinical models. Preclinical studies have also investigated gene transfer approaches for other rare inherited bleeding disorders, including factor VII deficiency, von Willebrand disease, and Glanzmann thrombasthenia. Here we review the successful gene therapy journey for hemophilia and pose some unanswered questions. We then discuss the current state of gene therapy for these other rare inherited bleeding disorders and how the lessons of hemophilia gene therapy may guide clinical development.

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“…It allows, in its activated form, to bind mainly fibrinogen but also vWF and fibronectin (Bennett, 2015;Porwit & Bene, 2018). GPIIb-IIIa deficiency, known as Glanzmann thrombasthenia, is a rare hemostasis disease leading to severe bleeding disorders with induced or spontaneous bleeding (Grainger, Thachil, & Will, 2018;Solh, Botsford, & Solh, 2015 two molecules is essential for the complex to be expressed on the platelet surface. With regard to quantitative deficiencies, use in FCM of a single monoclonal antibody directed either against GPIIb or GPIIIa and demonstrating a deficiency is therefore sufficient to sustain the absence of the complex on the platelet surface (Mitchell, Li, French, & Coller, 2006;O'Toole et al, 1989) (Figure 3a).…”

Section: Analysis Of Platelets In Fcmmentioning

confidence: 99%

Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints

Fouassier

Babuty

Debord

et al. 2020

Cytometry Part B Clinical

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Inherited platelet function disorders are rare hemorrhagic diseases. The gold standard for their exploration is optical aggregometry; however, investigations by flow cytometry (FCM) are being increasingly used. In this review, the physiology of platelets is first recalled, setting the stage for the compartments of platelets that can be apprehended by specific and appropriate labeling. As this requires some preanalytical precautions and specific analytical settings, a second part focuses on these characteristic aspects, based on literature and on the authors' experience in the field, for qualitative or quantitative explorations. 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. Platelet degranulation disorders are detailed in the next section, as they can be explored, upon platelet activation, by measuring the expression of surface P-Selectin (CD62P) or CD63. Mepacrin uptake and release after activation is another test allowing to explore the function of dense granules. Finally, the flip-flop anomaly related to Scott syndrome is depicted. Tables summarizing possible FCM assays, and characteristic histograms are provided as reference for flow laboratories interested in developing platelet exploration.

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How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults

Cited by 79 publications

References 78 publications

Bernard-Soulier Syndrome in Pregnancy: A Case Report

Bernard-Soulier Syndrome in Pregnancy: A Case Report

Gene Therapy for Inherited Bleeding Disorders

Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints

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