New Families With Von Willebrand Disease Type 2m (Vicenza)

Zieger, Barbara; Budde, Ulrich; Jessat, U.; Zimmerman, Rainer; Simon, Michael A.; Kätzel, R.; Sutor, A. H.

doi:10.1016/s0049-3848(97)00104-7

Cited by 28 publications

(19 citation statements)

References 19 publications

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“…After the first description of type Vicenza VWD, other cases were reported in Germany and Hungary, 8,22 suggesting a broader distribution of this variant. Two subtypes were identified, one characterized by normal platelet VWF content, as in the original type Vicenza patients, the other characterized by reduced platelet VWF.…”

Section: Discussionmentioning

confidence: 99%

“…Two subtypes were identified, one characterized by normal platelet VWF content, as in the original type Vicenza patients, the other characterized by reduced platelet VWF. 8 In so-called classic type Vicenza VWD, besides the presence of supranormal VWF multimers in plasma, the pathognomonic hemostatic aspect is the very low level of plasma VWF despite the normal level of platelet VWF. This latter finding clearly demonstrates that VWF synthesis is normal because platelet VWF content is seen as the expression of VWF synthesis by endothelial cells.…”

Section: Discussionmentioning

confidence: 99%

“…5 Type Vicenza VWD described in patients originating from the Vicenza area in Italy, is characterized by autosomal dominant inheritance, low plasma VWF levels, and normal platelet VWF content 6,7 ; its peculiarity is the presence of larger than normal (supranormal) VWF multimers that usually are not present in the plasma but are observed after the infusion of desmopressin (DDAVP; Emosint, Sclavo, Italy). 6,8 From a hemostatic perspective, high-molecular-weight multimers are known to be more efficient because of their capacity to induce multiple binding sites at the subendothelial matrix. 9 However, the larger forms displayed by type Vicenza VWF are not characterized by increased hemostatic function 10 ; indeed, their functional activity is said to be decreased, which means that type Vicenza, which was originally included in the type 1 group, is now classified as a 2M subtype.…”

Section: Introductionmentioning

confidence: 99%

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Reduced von Willebrand factor survival in type Vicenza von Willebrand disease

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Pontara

Sartorello

et al. 2002

Blood

142

173

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Type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. Two candidate mutations, G2470A and G3864A at exons 17 and 27, respectively, of the VWF gene were recently reported to be present in this disorder. Four additional families, originating from northeast Italy, with both mutations of type Vicenza VWD are now described. Like the original type Vicenza subjects, they showed a mild bleeding tendency and a significant decrease in plasma VWF antigen level and ristocetin cofactor activity but normal platelet VWF content. Unlike the original patients, ristocetin-induced platelet aggregation was found to be normal. Larger than normal VWF multimers were also demonstrated in the plasma. Desmopressin (DDAVP) administration increased factor VIII (FVIII) and VWF plasma levels, with the appearance of even larger multimers. However, these forms, and all VWF oligomers, disappeared rapidly from the circulation. The half-life of VWF antigen release and of elimination was significantly shorter than that in healthy counterparts, so that at 4 hours after DDAVP administration, VWF antigen levels were close to baseline. Similar behavior was demonstrated by VWF ristocetin cofactor activity and FVIII. According to these findings, it is presumed that the low plasma VWF levels of type Vicenza VWD are mainly attributed to reduced survival of the VWF molecule, which, on the other hand, is normally synthesized. In addition, because normal VWF-platelet GPIb interaction was observed before or after DDAVP administration, it is proposed that type Vicenza VWD not be considered a 2M subtype. (Blood. 2002;99:180-184)

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Reduced von Willebrand factor survival in type Vicenza von Willebrand disease

Casonato

Pontara

Sartorello

et al. 2002

Blood

142

173

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show abstract

“…In the subtype Vicenza of VWD 2M, DDAVP infusion raised the F VIII and VWF levels to normal levels without changing the multimeric pattern. The maximal response was seen within 1 h after infusion, which coincided with the normalization of the bleeding time ( Zieger et al , 1998a ).…”

Section: Haemostatic Response To Ddavp Therapymentioning

confidence: 91%

Ddavp Is Not a Panacea for Children With Bleeding Disorders

Sutor

2000

Br J Haematol

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“…This is caused by qualitatively abnormal vWF multimers containing subunits with structural defects [2,6,8]. The clinical picture comprises a mild to moderate bleeding tendency, probably due to varying degrees of an associated FVIII:C de®ciency [8,13]. Similarly the bleeding time, an important determinant of the bleeding tendency in vWD, in type 2M patients might be borderline or prolonged.…”

Section: Introductionmentioning

confidence: 99%