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Total absence von Willebrand factor multimers

MedGen UID:
868222
Concept ID:
C4022614
Finding
HPO: HP:0030134

Definition

Complete absence of all von Willebrand factor multimers. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTotal absence von Willebrand factor multimers

Professional guidelines

PubMed

Budde U, Schneppenheim R, Eikenboom J, Goodeve A, Will K, Drewke E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Pérez A, Meyer D, Mazurier C, Goudemand J, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I
J Thromb Haemost 2008 May;6(5):762-71. Epub 2008 Mar 1 doi: 10.1111/j.1538-7836.2008.02945.x. PMID: 18315556

Recent clinical studies

Etiology

Van Belle E, Debry N, Vincent F, Kuchcinski G, Cordonnier C, Rauch A, Robin E, Lassalle F, Pontana F, Delhaye C, Schurtz G, JeanPierre E, Rousse N, Casari C, Spillemaeker H, Porouchani S, Pamart T, Denimal T, Neiger X, Verdier B, Puy L, Cosenza A, Juthier F, Richardson M, Bretzner M, Dallongeville J, Labreuche J, Mazighi M, Dupont-Prado A, Staels B, Lenting PJ, Susen S
Circulation 2022 Aug 2;146(5):383-397. Epub 2022 Jun 20 doi: 10.1161/CIRCULATIONAHA.121.057145. PMID: 35722876Free PMC Article
Freedman M, Rock G
Transfus Apher Sci 2010 Oct;43(2):179-82. Epub 2010 Aug 16 doi: 10.1016/j.transci.2010.07.004. PMID: 20719565
Favaloro EJ
Semin Thromb Hemost 2002 Apr;28(2):191-202. doi: 10.1055/s-2002-27821. PMID: 11992242
Veyradier A, Obert B, Houllier A, Meyer D, Girma JP
Blood 2001 Sep 15;98(6):1765-72. doi: 10.1182/blood.v98.6.1765. PMID: 11535510

Diagnosis

Miodownik S, Pikovsky O, Erez O, Kezerle Y, Lavon O, Rabinovich A
Am J Obstet Gynecol 2021 Aug;225(2):177.e1-177.e15. Epub 2021 Feb 20 doi: 10.1016/j.ajog.2021.02.018. PMID: 33621545
Pérez-Rodríguez A, Batlle J, Corrales I, Borràs N, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Navarro N, Altisent C, Pérez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernández Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Castro Quismondo N, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio M, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Batlle F, Vidal F, López-Fernández MF
PLoS One 2018;13(6):e0197876. Epub 2018 Jun 20 doi: 10.1371/journal.pone.0197876. PMID: 29924855Free PMC Article
Daidone V, Barbon G, Cattini MG, Pontara E, Romualdi C, Di Pasquale I, Hosokawa K, Casonato A
Haemophilia 2016 Nov;22(6):949-956. Epub 2016 Jun 13 doi: 10.1111/hae.12971. PMID: 27293213
Favaloro EJ
Semin Thromb Hemost 2002 Apr;28(2):191-202. doi: 10.1055/s-2002-27821. PMID: 11992242
Mazurier C, Ribba AS, Gaucher C, Meyer D
Ann Genet 1998;41(1):34-43. PMID: 9599650

Therapy

Van Belle E, Debry N, Vincent F, Kuchcinski G, Cordonnier C, Rauch A, Robin E, Lassalle F, Pontana F, Delhaye C, Schurtz G, JeanPierre E, Rousse N, Casari C, Spillemaeker H, Porouchani S, Pamart T, Denimal T, Neiger X, Verdier B, Puy L, Cosenza A, Juthier F, Richardson M, Bretzner M, Dallongeville J, Labreuche J, Mazighi M, Dupont-Prado A, Staels B, Lenting PJ, Susen S
Circulation 2022 Aug 2;146(5):383-397. Epub 2022 Jun 20 doi: 10.1161/CIRCULATIONAHA.121.057145. PMID: 35722876Free PMC Article

Prognosis

Miodownik S, Pikovsky O, Erez O, Kezerle Y, Lavon O, Rabinovich A
Am J Obstet Gynecol 2021 Aug;225(2):177.e1-177.e15. Epub 2021 Feb 20 doi: 10.1016/j.ajog.2021.02.018. PMID: 33621545
Budde U, Schneppenheim R, Eikenboom J, Goodeve A, Will K, Drewke E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Pérez A, Meyer D, Mazurier C, Goudemand J, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I
J Thromb Haemost 2008 May;6(5):762-71. Epub 2008 Mar 1 doi: 10.1111/j.1538-7836.2008.02945.x. PMID: 18315556
Veyradier A, Obert B, Houllier A, Meyer D, Girma JP
Blood 2001 Sep 15;98(6):1765-72. doi: 10.1182/blood.v98.6.1765. PMID: 11535510

Clinical prediction guides

Van Belle E, Debry N, Vincent F, Kuchcinski G, Cordonnier C, Rauch A, Robin E, Lassalle F, Pontana F, Delhaye C, Schurtz G, JeanPierre E, Rousse N, Casari C, Spillemaeker H, Porouchani S, Pamart T, Denimal T, Neiger X, Verdier B, Puy L, Cosenza A, Juthier F, Richardson M, Bretzner M, Dallongeville J, Labreuche J, Mazighi M, Dupont-Prado A, Staels B, Lenting PJ, Susen S
Circulation 2022 Aug 2;146(5):383-397. Epub 2022 Jun 20 doi: 10.1161/CIRCULATIONAHA.121.057145. PMID: 35722876Free PMC Article
Budde U, Schneppenheim R, Eikenboom J, Goodeve A, Will K, Drewke E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Pérez A, Meyer D, Mazurier C, Goudemand J, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I
J Thromb Haemost 2008 May;6(5):762-71. Epub 2008 Mar 1 doi: 10.1111/j.1538-7836.2008.02945.x. PMID: 18315556
Veyradier A, Obert B, Houllier A, Meyer D, Girma JP
Blood 2001 Sep 15;98(6):1765-72. doi: 10.1182/blood.v98.6.1765. PMID: 11535510
Lyons SE, Bruck ME, Bowie EJ, Ginsburg D
J Biol Chem 1992 Mar 5;267(7):4424-30. PMID: 1537829

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