Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation

Hi, Saba; Saba, SR; Dent, Judith A.; Ruggeri, ZM; Zimmerman, Theodore S.

doi:10.1182/blood.v66.2.282.282

Cited by 83 publications

(24 citation statements)

References 20 publications

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“…39 Referred to as type 2B Tampa, chronic thrombocytopenia and spontaneous platelet aggregation, increased RIPA, and absent HMW VWF multimers were associated with only moderate bleeding and led to diagnosis as ITP. 40 In three unrelated cases with different exon 28 mutations, platelet ultrastructural changes were identified. 41 Moreover, an impaired megakaryocytopoiesis was reported in type 2B VWD with severe thrombocytopenia.…”

Section: Type 2b Vwd Variantsmentioning

confidence: 99%

“…A1 mutations can have different GP1BA binding affinities and various degrees of platelet activation and aggregation. 56 Type 2B VWD patients with similar mutations can have different platelet counts, 2 and some have giant platelets 38,40 and can be associated with abnormal megakarypoiesis. 41,57 A full explanation of the pathophysiologic mechanisms behind this is still lacking.…”

Section: Physiologic Factorsmentioning

confidence: 99%

“…Large platelets were described in patients with type 2B VWD, 40 and giant platelet syndrome was described in type 2B VWD with Val 1316 Met with evidence of independent inheritance. 38 In addition, early reports of 2B VWD's ''nonidentical twin'' (i.e., PT-VWD) have demonstrated an increased mean platelet volume.…”

Section: Platelet and Megakaryocytopoiesismentioning

confidence: 99%

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Genetics of type 2B von Willebrand Disease: “True 2B,” “tricky 2B,” or “Not 2B.” What Are the Modifiers of the Phenotype?

Othman¹,

Favaloro²

2008

Semin Thromb Hemost

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Type 2B von Willebrand disease (VWD) is a qualitative type of VWD with a unique feature among VWD types, resulting from an increased binding of von Willebrand factor (VWF) to its platelet receptor glycoprotein 1b-alpha (GP1BA). This heightened responsiveness takes place in vivo without endothelial injury or shear stress induction, typically resulting in loss of the hemostatically most active high-molecular-weight VWF multimers and leading to a bleeding diathesis. This process also typically leads to clearance of platelets and thus usually mild thrombocytopenia. At least this describes the classic representation of type 2B VWD (i.e., the typical picture we have come to know since the description/classification of this disorder in the early 1990s). Over more recent years, several reports have described individual cases, groups of patients, and families diagnosed with type 2B VWD where this picture was not typical in one or more aspects. This review discusses type 2B-like disorders and sheds light on potential phenotypic modifiers that might be responsible for the variation encountered with the classic picture of type 2B VWD as well as the impact on the diagnostic certainty of type 2B VWD.

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Section: Type 2b Vwd Variantsmentioning

confidence: 99%

Section: Physiologic Factorsmentioning

confidence: 99%

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Genetics of type 2B von Willebrand Disease: “True 2B,” “tricky 2B,” or “Not 2B.” What Are the Modifiers of the Phenotype?

Othman¹,

Favaloro²

2008

Semin Thromb Hemost

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“…This is the case of the May-Hegglin anomaly, [2][3][4][5] Wiskott-Aldrich syndrome, [6][7][8][9][10][11][12][13][14] Bernard-Soulier syndrome, [15][16][17] and certain variants of von Willebrand factor deficiency. [18][19][20] The first two entities are fairly frequent. However, this classification is often exclusively based on descriptive features, as the precise mechanism of thrombocytopenia is often not well elucidated (even when the defect of production is well documented).…”

Section: Classification Of Constitutional Hereditary Thrombocytopeniamentioning

confidence: 99%

“…and especially of plasma composition of von Willebrand factor [18][19][20]26 Apart from Bernard-Soulier syndrome and gray platelet syndrome, the analysis of platelet glycoproteins and content does not provide any definite information. 10…”

Section: Thrombocytopenia With Anomalies Of Concentrationmentioning

confidence: 99%

Hereditary Thrombocytopenias in Childhood

Najean

Lecompte²

1995

Semin Thromb Hemost

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Thrombocytopenia is generally known in its most severe form as acquired immunologic disease. However, in some cases thrombocytopenia is constitutional and may or may not be associated with thrombocytopathy. This review focuses on the clinical and biologic diagnostic criteria of genetic thrombocytopenia, with specific emphasis on the clinical value of the platelet life span and wishes to reiterate the necessity of their identification, as an excessively rapid diagnosis of ITP may be a source of treatment failure. As an example of constitutional thrombocytopenia, we report here 83 familial cases with pure genetic macrothrombocytopenia. They are characterized by the absence of significant bleeding disorders, stable thrombocyte counts higher than 50 x 10(9)/l, platelet macrocytosis, normal platelet function, normal or never increased presence of megakaryocytes, and rarely positive immunological abnormalities. In all cases, platelet life span clearly indicated a defect of production with destruction linked to the ageing population (more than 7 days) and no abnormal sequestration in the spleen or liver. Thus, apart from thrombocytopenia with thrombocytopathy, kinetic studies are necessary in thrombocytopenias whenever clinical parameters do not suggest the presence of excessive platelet destruction.

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Giant platelet disorder in a patient with type 2B von Willebrand's disease

1998

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While patients with type 2B von Willebrand's disease often exhibit thrombocytopenia, platelet morphology is typically normal. We describe a 44-year-old Jamaican man with thrombocytopenia and a history of bleeding, who had giant platelets on his peripheral blood film. Functional studies and von Willebrand factor gene sequencing showed him to have type 2B von Willebrand's disease with a heterozygous point mutation resulting in a V553M (V1316M in the new von Willebrand factor gene mutation nomenclature) amino acid substitution. Family studies showed one of his two sisters to have an ill-defined giant-platelet-syndrome with mild thrombocytopenia, but not von Willebrand's disease, indicating that the association of giant platelets and von Willebrand's disease in our patient was most likely coincidental. This report describes the rare concurrence of two uncommon disorders. It also demonstrates how the thrombocytopenia of type 2B von Willebrand's disease can be misdiagnosed as ITP, leading to unnecessary and potentially harmful therapeutic interventions.

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Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation

Cited by 83 publications

References 20 publications

Genetics of type 2B von Willebrand Disease: “True 2B,” “tricky 2B,” or “Not 2B.” What Are the Modifiers of the Phenotype?

Genetics of type 2B von Willebrand Disease: “True 2B,” “tricky 2B,” or “Not 2B.” What Are the Modifiers of the Phenotype?

Hereditary Thrombocytopenias in Childhood

Giant platelet disorder in a patient with type 2B von Willebrand's disease

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