Management of inherited von Willebrand Disease in Italy: Results from the retrospective study on 1234 patients

Augusto B. Federici, Paolo Bucciarelli, Giancarlo Castaman, Luciano Baronciani, Maria T. Canciani, Maria G. Mazzucconi, Massimo Morfini, Angiola Rocino, Mario Schiavoni, Emily Oliovecchio, Alfonso Iorio, Pier M. Mannucci

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

von Willebrand disease (VWD) is the most common inherited bleeding disorder and is due to quantitative and/or qualitative defects of von Willebrand factor (VWF). Despite the improved knowledge of the disease, detailed data on VWD types requiring specific treatments have not been reported thus far. To determine the number and types of VWD requiring therapy with desmopressin (DDAVP) and/or VWF/FVIII concentrates in Italy, a national registry on VWD (RENAWI) was organized. Only 16 of 48 centers included VWD in the RENAWI with diagnoses performed locally. Patients with uncertain results were retested by two expert laboratories using multimeric analysis and mutations of the VWF gene. A total of 1234 of 1529 (81%) cases satisfied the inclusion criteria and could be classified as VWD1 (63%), VWD2A (7%), VWD2B (6%), VWD2M (18%), VWD2N (1%), and VWD3 (5%). VWD types were also confirmed by DNA analyses and occur in young adults (83%), mainly in women (58%). Mucosal bleedings (32 to 57%) are more frequent than hematomas (13%) or hemarthrosis (6%). Most patients were exposed to an infusion trial with desmopressin (DDAVP) and found responsive with the following rates: VWD1 (69%), VWD2A (26%), VWD2M (29%), and VWD2N (71%). However, DDAVP was not always used to manage bleeding in all responsive patients and VWF/FVIII concentrates were given instead of or together with DDAVP in VWD1 (30%), VWD2A (84%), VWD2B (62%), VWD2M (63%), VWD2N (30%), and VWD3 (91%). Data of the RENAWI showed that correct VWD identification and classification might be difficult in many Italian centers. Therefore, evidence-based studies should be organized only in well-characterized patients tested by laboratories that are expert in the clinical, laboratory, and molecular markers of VWD.

Original languageEnglish
Pages (from-to)511-521
Number of pages11
JournalSeminars in Thrombosis and Hemostasis
Volume37
Issue number5
DOIs
Publication statusPublished - 2011

Fingerprint

von Willebrand Diseases
Deamino Arginine Vasopressin
Italy
Retrospective Studies
von Willebrand Factor
Hemorrhage
Hemarthrosis
Hematoma
Registries
Young Adult
Biomarkers
Mutation
DNA
Therapeutics

Keywords

  • clinical
  • desmopressin
  • laboratory and molecular markers
  • mucosal bleeding
  • von Willebrand disease
  • von Willebrand factor assays
  • VWF/FVIII concentrates

ASJC Scopus subject areas

  • Hematology
  • Cardiology and Cardiovascular Medicine

Cite this

Management of inherited von Willebrand Disease in Italy : Results from the retrospective study on 1234 patients. / Federici, Augusto B.; Bucciarelli, Paolo; Castaman, Giancarlo; Baronciani, Luciano; Canciani, Maria T.; Mazzucconi, Maria G.; Morfini, Massimo; Rocino, Angiola; Schiavoni, Mario; Oliovecchio, Emily; Iorio, Alfonso; Mannucci, Pier M.

In: Seminars in Thrombosis and Hemostasis, Vol. 37, No. 5, 2011, p. 511-521.

Research output: Contribution to journalArticle

Federici, AB, Bucciarelli, P, Castaman, G, Baronciani, L, Canciani, MT, Mazzucconi, MG, Morfini, M, Rocino, A, Schiavoni, M, Oliovecchio, E, Iorio, A & Mannucci, PM 2011, 'Management of inherited von Willebrand Disease in Italy: Results from the retrospective study on 1234 patients', Seminars in Thrombosis and Hemostasis, vol. 37, no. 5, pp. 511-521. https://doi.org/10.1055/s-0031-1281037
Federici, Augusto B. ; Bucciarelli, Paolo ; Castaman, Giancarlo ; Baronciani, Luciano ; Canciani, Maria T. ; Mazzucconi, Maria G. ; Morfini, Massimo ; Rocino, Angiola ; Schiavoni, Mario ; Oliovecchio, Emily ; Iorio, Alfonso ; Mannucci, Pier M. / Management of inherited von Willebrand Disease in Italy : Results from the retrospective study on 1234 patients. In: Seminars in Thrombosis and Hemostasis. 2011 ; Vol. 37, No. 5. pp. 511-521.
@article{01ba921d51324e36bda934b08a900ea3,
title = "Management of inherited von Willebrand Disease in Italy: Results from the retrospective study on 1234 patients",
abstract = "von Willebrand disease (VWD) is the most common inherited bleeding disorder and is due to quantitative and/or qualitative defects of von Willebrand factor (VWF). Despite the improved knowledge of the disease, detailed data on VWD types requiring specific treatments have not been reported thus far. To determine the number and types of VWD requiring therapy with desmopressin (DDAVP) and/or VWF/FVIII concentrates in Italy, a national registry on VWD (RENAWI) was organized. Only 16 of 48 centers included VWD in the RENAWI with diagnoses performed locally. Patients with uncertain results were retested by two expert laboratories using multimeric analysis and mutations of the VWF gene. A total of 1234 of 1529 (81{\%}) cases satisfied the inclusion criteria and could be classified as VWD1 (63{\%}), VWD2A (7{\%}), VWD2B (6{\%}), VWD2M (18{\%}), VWD2N (1{\%}), and VWD3 (5{\%}). VWD types were also confirmed by DNA analyses and occur in young adults (83{\%}), mainly in women (58{\%}). Mucosal bleedings (32 to 57{\%}) are more frequent than hematomas (13{\%}) or hemarthrosis (6{\%}). Most patients were exposed to an infusion trial with desmopressin (DDAVP) and found responsive with the following rates: VWD1 (69{\%}), VWD2A (26{\%}), VWD2M (29{\%}), and VWD2N (71{\%}). However, DDAVP was not always used to manage bleeding in all responsive patients and VWF/FVIII concentrates were given instead of or together with DDAVP in VWD1 (30{\%}), VWD2A (84{\%}), VWD2B (62{\%}), VWD2M (63{\%}), VWD2N (30{\%}), and VWD3 (91{\%}). Data of the RENAWI showed that correct VWD identification and classification might be difficult in many Italian centers. Therefore, evidence-based studies should be organized only in well-characterized patients tested by laboratories that are expert in the clinical, laboratory, and molecular markers of VWD.",
keywords = "clinical, desmopressin, laboratory and molecular markers, mucosal bleeding, von Willebrand disease, von Willebrand factor assays, VWF/FVIII concentrates",
author = "Federici, {Augusto B.} and Paolo Bucciarelli and Giancarlo Castaman and Luciano Baronciani and Canciani, {Maria T.} and Mazzucconi, {Maria G.} and Massimo Morfini and Angiola Rocino and Mario Schiavoni and Emily Oliovecchio and Alfonso Iorio and Mannucci, {Pier M.}",
year = "2011",
doi = "10.1055/s-0031-1281037",
language = "English",
volume = "37",
pages = "511--521",
journal = "Seminars in Thrombosis and Hemostasis",
issn = "0094-6176",
publisher = "Thieme Medical Publishers",
number = "5",

}

TY - JOUR

T1 - Management of inherited von Willebrand Disease in Italy

T2 - Results from the retrospective study on 1234 patients

AU - Federici, Augusto B.

AU - Bucciarelli, Paolo

AU - Castaman, Giancarlo

AU - Baronciani, Luciano

AU - Canciani, Maria T.

AU - Mazzucconi, Maria G.

AU - Morfini, Massimo

AU - Rocino, Angiola

AU - Schiavoni, Mario

AU - Oliovecchio, Emily

AU - Iorio, Alfonso

AU - Mannucci, Pier M.

PY - 2011

Y1 - 2011

N2 - von Willebrand disease (VWD) is the most common inherited bleeding disorder and is due to quantitative and/or qualitative defects of von Willebrand factor (VWF). Despite the improved knowledge of the disease, detailed data on VWD types requiring specific treatments have not been reported thus far. To determine the number and types of VWD requiring therapy with desmopressin (DDAVP) and/or VWF/FVIII concentrates in Italy, a national registry on VWD (RENAWI) was organized. Only 16 of 48 centers included VWD in the RENAWI with diagnoses performed locally. Patients with uncertain results were retested by two expert laboratories using multimeric analysis and mutations of the VWF gene. A total of 1234 of 1529 (81%) cases satisfied the inclusion criteria and could be classified as VWD1 (63%), VWD2A (7%), VWD2B (6%), VWD2M (18%), VWD2N (1%), and VWD3 (5%). VWD types were also confirmed by DNA analyses and occur in young adults (83%), mainly in women (58%). Mucosal bleedings (32 to 57%) are more frequent than hematomas (13%) or hemarthrosis (6%). Most patients were exposed to an infusion trial with desmopressin (DDAVP) and found responsive with the following rates: VWD1 (69%), VWD2A (26%), VWD2M (29%), and VWD2N (71%). However, DDAVP was not always used to manage bleeding in all responsive patients and VWF/FVIII concentrates were given instead of or together with DDAVP in VWD1 (30%), VWD2A (84%), VWD2B (62%), VWD2M (63%), VWD2N (30%), and VWD3 (91%). Data of the RENAWI showed that correct VWD identification and classification might be difficult in many Italian centers. Therefore, evidence-based studies should be organized only in well-characterized patients tested by laboratories that are expert in the clinical, laboratory, and molecular markers of VWD.

AB - von Willebrand disease (VWD) is the most common inherited bleeding disorder and is due to quantitative and/or qualitative defects of von Willebrand factor (VWF). Despite the improved knowledge of the disease, detailed data on VWD types requiring specific treatments have not been reported thus far. To determine the number and types of VWD requiring therapy with desmopressin (DDAVP) and/or VWF/FVIII concentrates in Italy, a national registry on VWD (RENAWI) was organized. Only 16 of 48 centers included VWD in the RENAWI with diagnoses performed locally. Patients with uncertain results were retested by two expert laboratories using multimeric analysis and mutations of the VWF gene. A total of 1234 of 1529 (81%) cases satisfied the inclusion criteria and could be classified as VWD1 (63%), VWD2A (7%), VWD2B (6%), VWD2M (18%), VWD2N (1%), and VWD3 (5%). VWD types were also confirmed by DNA analyses and occur in young adults (83%), mainly in women (58%). Mucosal bleedings (32 to 57%) are more frequent than hematomas (13%) or hemarthrosis (6%). Most patients were exposed to an infusion trial with desmopressin (DDAVP) and found responsive with the following rates: VWD1 (69%), VWD2A (26%), VWD2M (29%), and VWD2N (71%). However, DDAVP was not always used to manage bleeding in all responsive patients and VWF/FVIII concentrates were given instead of or together with DDAVP in VWD1 (30%), VWD2A (84%), VWD2B (62%), VWD2M (63%), VWD2N (30%), and VWD3 (91%). Data of the RENAWI showed that correct VWD identification and classification might be difficult in many Italian centers. Therefore, evidence-based studies should be organized only in well-characterized patients tested by laboratories that are expert in the clinical, laboratory, and molecular markers of VWD.

KW - clinical

KW - desmopressin

KW - laboratory and molecular markers

KW - mucosal bleeding

KW - von Willebrand disease

KW - von Willebrand factor assays

KW - VWF/FVIII concentrates

UR - http://www.scopus.com/inward/record.url?scp=81755176084&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=81755176084&partnerID=8YFLogxK

U2 - 10.1055/s-0031-1281037

DO - 10.1055/s-0031-1281037

M3 - Article

C2 - 22102194

AN - SCOPUS:81755176084

VL - 37

SP - 511

EP - 521

JO - Seminars in Thrombosis and Hemostasis

JF - Seminars in Thrombosis and Hemostasis

SN - 0094-6176

IS - 5

ER -