Diagnosis of platelet-type von Willebrand disease by flow cytometry

Giannini, Silvia; Cecchetti, Luca; Mezzasoma, Anna Maria; Gresele, Paolo

doi:10.3324/haematol.2009.015990

Cited by 54 publications

(47 citation statements)

References 18 publications

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“…The disorders can be distinguished by mixing patient or control plasma and platelets to determine which component is defective using platelet aggregation or flow cytometry, but these assays are technically challenging. 25,52,77–78 When mutations are absent from exon 28 of VWF , mutations in exon 2 of GPIBA may be identified. To date, missense mutations reported to affect GpIbα amino acids p.Gly249 and p.Met255 plus a 27bp in-frame deletion p.Pro449_Ser457del (c.1345_1371del27) 79–80 have been reported (following Human Genome Variation Society nomenclature; 81 reference sequences NP_000164.4 and NM_000173.4, legacy numbering G233, M239, P433–441 deletion).…”

Section: Differential Diagnosismentioning

confidence: 99%

von Willebrand disease

James

Goodeve

2011

Genetics in Medicine

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von Willebrand disease (VWD) is a common inherited bleeding disorder characterized by excessive mucocutaneous bleeding. Characteristic bleeding symptoms include epistaxis, easy bruising, oral cavity bleeding, menorrhagia, bleeding after dental extraction, surgery and/or childbirth and in severe cases, bleeding into joints and soft tissues. There are three subtypes: types 1 and 3 represent quantitative variants and type 2 is a group of four qualitative variants: 1) type 2A - characterized by defective von Willebrand factor (VWF) -dependent platelet adhesion because of decreased high molecular weight (HMW) VWF multimers, 2) type 2B - caused by pathologically increased VWF-platelet interactions, 3) type 2M - caused by decreased VWF-platelet interactions not based on the loss of HMW multimers and 4) type 2N - characterized by abnormal binding of VWF to FVIII. The diagnosis of VWD requires specialized assays of von Willebrand factor (VWF) and/or molecular genetic testing of VWF. Severe bleeding episodes can be prevented or controlled with intravenous infusions of virally-inactivated plasma-derived clotting factor concentrates containing both VWF and FVIII. Depending on the VWD type, mild bleeding episodes usually respond to intravenous or subcutaneous treatment with desmopressin, a vasopressin analog. Other treatments that can reduce symptoms include fibrinolytic inhibitors and hormones for menorrhagia.

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Section: Differential Diagnosismentioning

confidence: 99%

von Willebrand disease

James

Goodeve

2011

Genetics in Medicine

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“…An alternative approach to test platelet function is by means of flow cytometry. Here, platelet activation can be determined by quantifying fibrinogen binding to integrin αIIbβ3, or expression of P‐selectin or CD63 on the platelet surface upon stimulation , and also ristocetin‐induced VWF‐platelet binding can be determined . Flow cytometry‐based approaches for the assessment of platelet function have already been used for many years in research settings .…”

Section: Introductionmentioning

confidence: 99%

Validation of flow cytometric analysis of platelet function in patients with a suspected platelet function defect

Asten

Schutgens

Baaij

et al. 2018

Journal of Thrombosis and Haemostasis

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“…V to skupino uvrščamo sindrom Bernard-Soulier (24)(25)(26), trombocitni tip von Willebrandove bolezni (27,28), na kromosom X vezano mikrotrombocitopenijo s sindromom Wiscott-Aldrich (29,30), na kromosom X vezano makrotrombocitopenijo (31), avtosomno dominantno trombocitopenijo z normalno velikostjo trombocitov, povezano z mutacijo v MYH9 (angl. myosin heavy chain) genu (32,33), trombocitopenijo z obojestransko odsotno koželj-nico in/ali podlahtnico, strukturnimi nepravilnostmi srca in okvarami ledvic (sindrom TAR) (34), družinsko motnjo trombocitov z nagnjenostjo k razvoju mieloidne maligne bolezni (35) ter nekatere druge.…”

Section: Pmdt Z Znižanim Ali Variabilnim šTevilom Trombocitovunclassified

Sodobni pristop za diagnosticiranje prirojenih motenj delovanja trombocitov

et al. 2016

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Inherited platelet function disorders (IPFD) comprise a heterogeneous group of diseases. Their real frequency is probably underestimated as in many patients with excessive subcutaneous and mucosal bleedings the disorder has not been recognized. The presented diagnostic recommendations are based on a systematic review of the scientific literature and describe the role of platelets in the clotting process and the most common congenital disorders of platelet function. A diagnostic algorithm for clinical and laboratory stepwise management of patients with IPFD is presented.

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Diagnosis of platelet-type von Willebrand disease by flow cytometry

Cited by 54 publications

References 18 publications

von Willebrand disease

von Willebrand disease

Validation of flow cytometric analysis of platelet function in patients with a suspected platelet function defect

Sodobni pristop za diagnosticiranje prirojenih motenj delovanja trombocitov

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