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Absence of large von Willebrand factor multimers

MedGen UID:
1841536
•Concept ID:
C5826355
•
Finding
HPO: HP:0030132

Definition

Absence of large von Willebrand Factor multimers on gel electrophoresis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsence of large von Willebrand factor multimers

Professional guidelines

PubMed

Diagnosis and follow-up of thrombotic thrombocytopenic purpura by means of von Willebrand factor collagen binding assay.
Casonato A, Fabris F, Pontara E, Cattini MG, Zocca N, Gallinaro L, Girolami A, Pagnan A
Clin Appl Thromb Hemost 2006 Jul;12(3):296-304. doi: 10.1177/1076029606291385. PMID: 16959682
Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H
Semin Thromb Hemost 2005 Nov;31(5):577-601. doi: 10.1055/s-2005-922230. PMID: 16276467
Acquired von Willebrand syndromes: clinical features, aetiology, pathophysiology, classification and management.
Michiels JJ, Budde U, van der Planken M, van Vliet HH, Schroyens W, Berneman Z
Best Pract Res Clin Haematol 2001 Jun;14(2):401-36. doi: 10.1053/beha.2001.0141. PMID: 11686107

Recent clinical studies

Etiology

An Overview of Laboratory Testing for ADAMTS13.
Favaloro EJ, Pasalic L
Methods Mol Biol 2023;2663:481-486. doi: 10.1007/978-1-0716-3175-1_31. PMID: 37204731
Absence of exaggerated pharmacology by recombinant ADAMTS13 in the rat and monkey.
Rossato P, Glantschnig H, Leidenmühler P, Kopic A, Ruthsatz T, Majer B, Schuster M, Scheiflinger F, Höllriegl W
Blood Coagul Fibrinolysis 2022 Jan 1;33(1):56-60. doi: 10.1097/MBC.0000000000001064. PMID: 34267062Free PMC Article
Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H
Semin Thromb Hemost 2005 Nov;31(5):577-601. doi: 10.1055/s-2005-922230. PMID: 16276467
Shear stress and von Willebrand factor in health and disease.
Tsai HM
Semin Thromb Hemost 2003 Oct;29(5):479-88. doi: 10.1055/s-2003-44556. PMID: 14631548
Von Willebrand factor: molecular size and functional activity.
Furlan M
Ann Hematol 1996 Jun;72(6):341-8. doi: 10.1007/s002770050184. PMID: 8767102

Diagnosis

Identification of ADAMTS13 Inhibitors in Acquired TTP.
Favaloro EJ, Chapman K, Mohammed S, Vong R, Pasalic L
Methods Mol Biol 2023;2663:505-521. doi: 10.1007/978-1-0716-3175-1_33. PMID: 37204733
Automated and Rapid ADAMTS13 Testing Using Chemiluminescence: Utility for Identification or Exclusion of TTP and Beyond.
Favaloro EJ, Chapman K, Mohammed S, Vong R, Pasalic L
Methods Mol Biol 2023;2663:487-504. doi: 10.1007/978-1-0716-3175-1_32. PMID: 37204732
An Overview of Laboratory Testing for ADAMTS13.
Favaloro EJ, Pasalic L
Methods Mol Biol 2023;2663:481-486. doi: 10.1007/978-1-0716-3175-1_31. PMID: 37204731
Acquired von Willebrand disease due to increasing platelet count can readily explain the paradox of thrombosis and bleeding in thrombocythemia.
Michiels JJ
Clin Appl Thromb Hemost 1999 Jul;5(3):147-51. doi: 10.1177/107602969900500301. PMID: 10725999
Von Willebrand factor: molecular size and functional activity.
Furlan M
Ann Hematol 1996 Jun;72(6):341-8. doi: 10.1007/s002770050184. PMID: 8767102

Therapy

von Willebrand Factor-Rich Platelet Thrombi in the Liver Cause Sinusoidal Obstruction Syndrome following Oxaliplatin-Based Chemotherapy.
Nishigori N, Matsumoto M, Koyama F, Hayakawa M, Hatakeyayama K, Ko S, Fujimura Y, Nakajima Y
PLoS One 2015;10(11):e0143136. Epub 2015 Nov 18 doi: 10.1371/journal.pone.0143136. PMID: 26580395Free PMC Article
Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains.
Michiels JJ, Gadisseur A, van der Planken M, Schroyens W, Berneman Z
Acta Haematol 2009;121(2-3):111-8. Epub 2009 Jun 8 doi: 10.1159/000214851. PMID: 19506357
Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H
Semin Thromb Hemost 2005 Nov;31(5):577-601. doi: 10.1055/s-2005-922230. PMID: 16276467
Thrombotic thrombocytopenic purpura: survival by "giving a dam".
Moake JL
Trans Am Clin Climatol Assoc 2004;115:201-19. PMID: 17060968Free PMC Article
Acquired von Willebrand disease in myeloproliferative disorders.
van Genderen PJ, Leenknegt H, Michiels JJ, Budde U
Leuk Lymphoma 1996 Sep;22 Suppl 1:79-82. doi: 10.3109/10428199609074364. PMID: 8951776

Prognosis

Unfolding the pathophysiology of congenital thrombotic thrombocytopenic purpura in pregnancy: lessons from a cluster of familial cases.
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
Diagnosis and follow-up of thrombotic thrombocytopenic purpura by means of von Willebrand factor collagen binding assay.
Casonato A, Fabris F, Pontara E, Cattini MG, Zocca N, Gallinaro L, Girolami A, Pagnan A
Clin Appl Thromb Hemost 2006 Jul;12(3):296-304. doi: 10.1177/1076029606291385. PMID: 16959682
Specific von Willebrand factor-cleaving protease in thrombotic microangiopathies: a study of 111 cases.
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
Von Willebrand factor collagen binding activity in the diagnosis of von Willebrand disease: an alternative to ristocetin co-factor activity?
Casonato A, Pontara E, Bertomoro A, Sartorello F, Cattini MG, Girolami A
Br J Haematol 2001 Mar;112(3):578-83. doi: 10.1046/j.1365-2141.2001.02597.x. PMID: 11260057
Acquired von Willebrand's disease in the myeloproliferative syndrome.
Budde U, Schaefer G, Mueller N, Egli H, Dent J, Ruggeri Z, Zimmerman T
Blood 1984 Nov;64(5):981-5. PMID: 6333259

Clinical prediction guides

Plasma Cell Directed Therapy for Immune Thrombotic Thrombocytopenic Purpura (iTTP).
Chen M, Shortt J
Transfus Med Rev 2022 Oct;36(4):204-214. Epub 2022 Sep 22 doi: 10.1016/j.tmrv.2022.09.001. PMID: 36396570
Vitamin B12 deficiency and metabolism-mediated thrombotic microangiopathy (MM-TMA).
Sabry W, Elemary M, Burnouf T, Seghatchian J, Goubran H
Transfus Apher Sci 2020 Feb;59(1):102717. Epub 2019 Dec 31 doi: 10.1016/j.transci.2019.102717. PMID: 31902683
The activity of the von Willebrand factor cleaving protease ADAMTS-13 in newborn infants.
Schmugge M, Dunn MS, Amankwah KS, Blanchette VS, Freedman J, Rand ML
J Thromb Haemost 2004 Feb;2(2):228-33. doi: 10.1046/j.1538-7933.2003.00575.x. PMID: 14995983
Shear stress and von Willebrand factor in health and disease.
Tsai HM
Semin Thromb Hemost 2003 Oct;29(5):479-88. doi: 10.1055/s-2003-44556. PMID: 14631548
Acquired von Willebrand disease in myeloproliferative disorders.
van Genderen PJ, Leenknegt H, Michiels JJ, Budde U
Leuk Lymphoma 1996 Sep;22 Suppl 1:79-82. doi: 10.3109/10428199609074364. PMID: 8951776

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