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Bleeding symptoms in patients diagnosed as type 3 von Willebrand disease : Results from 3WINTERS-IPS, an international and collaborative cross-sectional study

Tosetto, Alberto ; Badiee, Zahra ; Baghaipour, Mohammad Reza ; Baronciani, Luciano ; Battle, Javier ; Berntorp, Erik LU ; Bodó, Imre ; Budde, Ulrich ; Castaman, Giancarlo and Eikenboom, Jeroen C.J. , et al. (2020) In Journal of Thrombosis and Haemostasis 18(9). p.2145-2154
Abstract

Background: Type 3 von Willebrand's disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. Because of its rarity, the bleeding phenotype of type 3 VWD is poorly described, as compared to type 1 VWD. Aims: To evaluate the frequency and the severity of bleeding symptoms across age and sex groups in type 3 patients and to compare these with those observed in type 1 VWD patients to investigate any possible clustering of bleeding symptoms within type 3 patients. Methods: We compared the bleeding phenotype and computed the bleeding score (BS) using the MCMDM-1VWD bleeding questionnaire in patients enrolled in the 3WINTERS-IPS and MCMDM-1VWD studies. Results: In 223 unrelated type 3 VWD patients, both... (More)

Background: Type 3 von Willebrand's disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. Because of its rarity, the bleeding phenotype of type 3 VWD is poorly described, as compared to type 1 VWD. Aims: To evaluate the frequency and the severity of bleeding symptoms across age and sex groups in type 3 patients and to compare these with those observed in type 1 VWD patients to investigate any possible clustering of bleeding symptoms within type 3 patients. Methods: We compared the bleeding phenotype and computed the bleeding score (BS) using the MCMDM-1VWD bleeding questionnaire in patients enrolled in the 3WINTERS-IPS and MCMDM-1VWD studies. Results: In 223 unrelated type 3 VWD patients, both the BS and the number of clinically relevant bleeding symptoms were increased in type 3 as compared to type 1 VWD patients (15 versus 6 and 5 versus 3). Intracranial bleeding, oral cavity, hemarthroses, and deep hematomas were at least five-fold over-represented in type 3 VWD. A more severe bleeding phenotype was evident in patients having von Willebrand factor antigen levels < 20 IU/dL at diagnosis in the two merged cohorts. In type 3 patients, there was an apparent clustering of hemarthrosis with gastrointestinal bleeding and epistaxis, whereas bleeding after surgery or tooth extraction clusters with oral bleeding and menorrhagia. Conclusions: In the largest cohort of type 3 VWD patients, we were able to describe a distinct clinical phenotype that is associated with the presence of a more severe hemostatic defect.

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publishing date
type
Contribution to journal
publication status
published
subject
keywords
type 1 epidemiology hemorrhage blood coagulation disorders, type 3 von Willebrand disease, von Willebrand disease
in
Journal of Thrombosis and Haemostasis
volume
18
issue
9
pages
10 pages
publisher
Wiley-Blackwell
external identifiers
  • pmid:32379400
  • scopus:85089780517
ISSN
1538-7933
DOI
10.1111/jth.14886
language
English
LU publication?
no
id
63955c53-9faa-4b94-9094-e4a3299da2fd
date added to LUP
2020-09-10 15:57:45
date last changed
2021-02-28 05:12:18
@article{63955c53-9faa-4b94-9094-e4a3299da2fd,
  abstract     = {<p>Background: Type 3 von Willebrand's disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. Because of its rarity, the bleeding phenotype of type 3 VWD is poorly described, as compared to type 1 VWD. Aims: To evaluate the frequency and the severity of bleeding symptoms across age and sex groups in type 3 patients and to compare these with those observed in type 1 VWD patients to investigate any possible clustering of bleeding symptoms within type 3 patients. Methods: We compared the bleeding phenotype and computed the bleeding score (BS) using the MCMDM-1VWD bleeding questionnaire in patients enrolled in the 3WINTERS-IPS and MCMDM-1VWD studies. Results: In 223 unrelated type 3 VWD patients, both the BS and the number of clinically relevant bleeding symptoms were increased in type 3 as compared to type 1 VWD patients (15 versus 6 and 5 versus 3). Intracranial bleeding, oral cavity, hemarthroses, and deep hematomas were at least five-fold over-represented in type 3 VWD. A more severe bleeding phenotype was evident in patients having von Willebrand factor antigen levels &lt; 20 IU/dL at diagnosis in the two merged cohorts. In type 3 patients, there was an apparent clustering of hemarthrosis with gastrointestinal bleeding and epistaxis, whereas bleeding after surgery or tooth extraction clusters with oral bleeding and menorrhagia. Conclusions: In the largest cohort of type 3 VWD patients, we were able to describe a distinct clinical phenotype that is associated with the presence of a more severe hemostatic defect.</p>},
  author       = {Tosetto, Alberto and Badiee, Zahra and Baghaipour, Mohammad Reza and Baronciani, Luciano and Battle, Javier and Berntorp, Erik and Bodó, Imre and Budde, Ulrich and Castaman, Giancarlo and Eikenboom, Jeroen C.J. and Eshghi, Peyman and Ettorre, Cosimo and Goodeve, Anne and Goudemand, Jenny and Hay, Charles Richard Morris and Hoorfar, Hamid and Karimi, Mehran and Keikhaei, Bijan and Lassila, Riitta and Leebeek, Frank W.G. and Lopez Fernandez, Maria Fernanda and Mannucci, Pier Mannuccio and Mazzucconi, Maria Gabriella and Morfini, Massimo and Oldenburg, Johannes and Peake, Ian and Parra Lòpez, Rafael and Peyvandi, Flora and Schneppenheim, Reinhard and Tiede, Andreas and Toogeh, Gholamreza and Trossaert, Marc and Zekavat, Omidreza and Zetterberg, Eva M.K. and Federici, Augusto B.},
  issn         = {1538-7933},
  language     = {eng},
  month        = {09},
  number       = {9},
  pages        = {2145--2154},
  publisher    = {Wiley-Blackwell},
  series       = {Journal of Thrombosis and Haemostasis},
  title        = {Bleeding symptoms in patients diagnosed as type 3 von Willebrand disease : Results from 3WINTERS-IPS, an international and collaborative cross-sectional study},
  url          = {http://dx.doi.org/10.1111/jth.14886},
  doi          = {10.1111/jth.14886},
  volume       = {18},
  year         = {2020},
}