Genetic testing for von Willebrand disease: the case against

Favaloro, Emmanuel J.

doi:10.1111/j.1538-7836.2009.03482.x

Cited by 46 publications

(46 citation statements)

References 34 publications

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“…15,19 VWF mutations are found in only 60%-65% of more severe type 1 cases (Ͻ 25 IU/dL) and in less than 50% of cases when the Ag levels are Ͼ 25 IU/dL. The highly polymorphic nature of VWF makes it more difficult to distinguish neutral variants from pathogenic mutations, especially for type 1 VWD, possibly leading to misclassification of a sequence variant.…”

Section: Discussionmentioning

confidence: 99%

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population

Bellissimo

Christopherson

Flood

et al. 2012

Blood

105

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Diagnosis and classification of VWD is aided by molecular analysis of the VWF gene. Because VWF polymorphisms have not been fully characterized, we performed VWF laboratory testing and gene sequencing of 184 healthy controls with a negative bleeding history. The controls included 66 (35.9%) African Americans (AAs). We identified 21 new sequence variations, 13 (62%) of which occurred exclusively in AAs and 2 (G967D, T2666M) that were found in 10%-15% of the AA samples, suggesting they are polymorphisms. We identified 14 sequence variations reported previously as VWF mutations, the majority of which were type 1 mutations. These controls had VWF Ag levels within the normal range, suggesting that these sequence variations might not always reduce plasma VWF levels. Eleven mutations were found in AAs, and the frequency of M740I, H817Q, and R2185Q was 15%-18%. Ten AA controls had the 2N mutation H817Q; 1 was homozygous. The average factor VIII level in this group was 99 IU/dL, suggesting that this variation may confer little or no clinical symptoms. This study emphasizes the importance of sequencing healthy controls to understand ethnic-specific sequence variations so that asymptomatic sequence variations are not misidentified as mutations in other ethnic or racial groups. (Blood. 2012;119(9):2135-2140)

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Section: Discussionmentioning

confidence: 99%

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population

Bellissimo

Christopherson

Flood

et al. 2012

Blood

105

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“…Various factors may interfere with these diagnostic tests ( e.g . systemic illness and surgery can affect vWF:Ag) (Favaloro ), therefore diagnosis of congenital vWD should ideally be made with DNA genetic testing, which is available for certain breeds (see Table ).…”

Section: Abnormalities Of Platelet Function Resulting In Haemorrhagementioning

confidence: 99%

Abnormal platelet activity in dogs and cats – impact and measurement

Gant

McBride

Humm

2020

J of Small Animal Practice

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Abnormal platelet activity can either lead to bleeding tendencies or inappropriate thrombus formation and can occur secondarily to a wide variety of disease processes, with a range of clinical consequences and severity. This article will discuss the pathophysiology of platelet function abnormalities and consider a logical diagnostic approach applicable to veterinary practice. Recent advances in platelet function testing will then be discussed, with regards to detection of platelet dysfunction and tailoring of pharmacological manipulation. Although many of these tests are still confined to research or academic institutions, techniques for indirectly assessing platelet function are starting to become more widely available. Although we still require further research to develop guidelines for the use of these tests in clinical decision‐making, the recent advances in this field are an exciting step forward in being able to detect and manage platelet dysfunction in both primary care and referral practice.

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“…VWF also presents as a multimeric protein, with increasing multimer size reflecting increasing copies of the base VWF dimer unit and, therefore, greater overall adhesive power or higher haemostatic potential [6]. The heterogeneity of VWD, therefore, reflects the large and complex multimeric protein that VWF represents as facilitating its myriad of functions, as well as the simple fact that many factors additional to the VWF gene can influence an individual's phenotype, bleeding risk or clinical presentation [11].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and classification of von Willebrand disease

Favaloro

2011

Blood Coagulation & Fibrinolysis

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von Willebrand disease (VWD) is considered to be the most common inherited bleeding disorder. VWD is diagnosed following a clinical and physical review, with personal and familial evidence of (primarily mucocutaneous) bleeding, and confirmed by laboratory testing. The latter typically entails initial plasma testing of factor VIII coagulant, von Willebrand factor (VWF) protein ('antigen') and VWF function which has classically been assessed using the ristocetin cofactor (VWF:RCo) assay. More recent attention has focussed on other functional VWF assays, such as collagen binding and so-called 'VWF activity' assays, as possible replacements to the VWF:RCo, or as supplementary tests of VWF 'function'. Additional laboratory testing can comprise a battery of confirmatory and VWD-type assisting assays, including VWF:multimer and von Willebrand factor VIII binding. This review aims to update knowledge of current VWD diagnostics with a particular emphasis on 'functional' VWF assays.

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Genetic testing for von Willebrand disease: the case against

Cited by 46 publications

References 34 publications

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population

Abnormal platelet activity in dogs and cats – impact and measurement

Diagnosis and classification of von Willebrand disease

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