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Abnormality of von Willebrand factor

MedGen UID:: 868623
•Concept ID:: C4023023
•: Anatomical Abnormality

HPO:	HP:0012146

Definition

Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormality of von Willebrand factor

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Abnormality of von Willebrand factor
        Abnormal von Willebrand factor multimer distribution
        Abnormal presence of ultra-large von Willebrand factor multimers
        Absence of intermediate von Willebrand factor multimers
        Absence of large von Willebrand factor multimers
        Decrease in high molecular weight von Willebrand factor Multimers
        Total absence von Willebrand factor multimers
        Enhanced ristocetin cofactor assay activity
        Impaired binding of factor VIII to VWF
        Impaired ristocetin cofactor assay activity
        Impaired ristocetin-induced platelet aggregation
        Impaired von Willebrand factor collagen binding activity
        Increased ratio of VWF propeptide to VWF antigen
        Reduced quantity of Von Willebrand factor
        Reduced von Willebrand factor activity

Professional guidelines

PubMed

Advances in the diagnosis and management of type 1 von Willebrand disease.

Castaman G, Rodeghiero F
Expert Rev Hematol 2011 Feb;4(1):95-106. doi: 10.1586/ehm.11.1. PMID: 21322782

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G, Federici AB, Rodeghiero F, Mannucci PM
Haematologica 2003 Jan;88(1):94-108. PMID: 12551832

Current management of von Willebrand's disease.

Castaman G, Rodeghiero F
Drugs 1995 Oct;50(4):602-14. doi: 10.2165/00003495-199550040-00003. PMID: 8536549

See all (4)

Recent clinical studies

Etiology

The role of VWF/FVIII in thrombosis and cancer progression in multiple myeloma and other hematological malignancies.

Comerford C, Glavey S, Quinn J, O'Sullivan JM
J Thromb Haemost 2022 Aug;20(8):1766-1777. Epub 2022 Jun 23 doi: 10.1111/jth.15773. PMID: 35644028 Free PMC Article

COVID-19 versus HIT hypercoagulability.

Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919 Free PMC Article

How I treat von Willebrand disease.

Castaman G
Thromb Res 2020 Dec;196:618-625. Epub 2020 Aug 3 doi: 10.1016/j.thromres.2020.07.051. PMID: 32819724

Genetic regulation of plasma von Willebrand factor levels in health and disease.

Swystun LL, Lillicrap D
J Thromb Haemost 2018 Dec;16(12):2375-2390. Epub 2018 Oct 30 doi: 10.1111/jth.14304. PMID: 30246494 Free PMC Article

Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies.

Scully M, Cataland S, Coppo P, de la Rubia J, Friedman KD, Kremer Hovinga J, Lämmle B, Matsumoto M, Pavenski K, Sadler E, Sarode R, Wu H; International Working Group for Thrombotic Thrombocytopenic Purpura
J Thromb Haemost 2017 Feb;15(2):312-322. Epub 2017 Jan 30 doi: 10.1111/jth.13571. PMID: 27868334

See all (729)

Diagnosis

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2022 May;28 Suppl 4:68-76. doi: 10.1111/hae.14548. PMID: 35521729

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2021 Feb;27 Suppl 3:5-13. Epub 2020 Jun 1 doi: 10.1111/hae.14033. PMID: 32476241

Hypercoagulability and Migraine.

Tietjen GE, Collins SA
Headache 2018 Jan;58(1):173-183. Epub 2017 Feb 9 doi: 10.1111/head.13044. PMID: 28181217

Coagulation Testing in the Core Laboratory.

Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301

How do we approach thrombocytopenia in critically ill patients?

Thachil J, Warkentin TE
Br J Haematol 2017 Apr;177(1):27-38. Epub 2016 Dec 16 doi: 10.1111/bjh.14482. PMID: 27982413

See all (621)

Therapy

The role of VWF/FVIII in thrombosis and cancer progression in multiple myeloma and other hematological malignancies.

Comerford C, Glavey S, Quinn J, O'Sullivan JM
J Thromb Haemost 2022 Aug;20(8):1766-1777. Epub 2022 Jun 23 doi: 10.1111/jth.15773. PMID: 35644028 Free PMC Article

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2022 May;28 Suppl 4:68-76. doi: 10.1111/hae.14548. PMID: 35521729

Valproic Acid-Induced Coagulopathy.

Kumar R, Vidaurre J, Gedela S
Pediatr Neurol 2019 Sep;98:25-30. Epub 2019 May 2 doi: 10.1016/j.pediatrneurol.2019.04.019. PMID: 31201069

AGA Clinical Practice Update: Coagulation in Cirrhosis.

O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390

Hypercoagulability and Migraine.

Tietjen GE, Collins SA
Headache 2018 Jan;58(1):173-183. Epub 2017 Feb 9 doi: 10.1111/head.13044. PMID: 28181217

See all (436)

Prognosis

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2022 May;28 Suppl 4:68-76. doi: 10.1111/hae.14548. PMID: 35521729

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2021 Feb;27 Suppl 3:5-13. Epub 2020 Jun 1 doi: 10.1111/hae.14033. PMID: 32476241

COVID-19 versus HIT hypercoagulability.

Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919 Free PMC Article

How do we approach thrombocytopenia in critically ill patients?

Thachil J, Warkentin TE
Br J Haematol 2017 Apr;177(1):27-38. Epub 2016 Dec 16 doi: 10.1111/bjh.14482. PMID: 27982413

The use of desmopressin in von Willebrand disease: the experience of the first 30 years (1977-2007).

Federici AB
Haemophilia 2008 Jan;14 Suppl 1:5-14. doi: 10.1111/j.1365-2516.2007.01610.x. PMID: 18173689

See all (301)

Clinical prediction guides

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2022 May;28 Suppl 4:68-76. doi: 10.1111/hae.14548. PMID: 35521729

Approach to the Patient with Bleeding.

Chaigneau M, James PD
Hematol Oncol Clin North Am 2021 Dec;35(6):1039-1049. Epub 2021 Sep 15 doi: 10.1016/j.hoc.2021.07.001. PMID: 34535288

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2021 Feb;27 Suppl 3:5-13. Epub 2020 Jun 1 doi: 10.1111/hae.14033. PMID: 32476241

COVID-19 versus HIT hypercoagulability.

Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919 Free PMC Article

Genetic regulation of plasma von Willebrand factor levels in health and disease.

Swystun LL, Lillicrap D
J Thromb Haemost 2018 Dec;16(12):2375-2390. Epub 2018 Oct 30 doi: 10.1111/jth.14304. PMID: 30246494 Free PMC Article

See all (574)

Recent systematic reviews

von Willebrand factor levels in the diagnosis of von Willebrand disease: a systematic review and meta-analysis.

Kalot MA, Husainat N, El Alayli A, Abughanimeh O, Diab O, Tayiem S, Madoukh B, Dimassi AB, Qureini A, Ameer B, Eikenboom JCJ, Giraud N, McLintock C, McRae S, Montgomery RR, O'Donnell JS, Scappe N, Sidonio RF, Brignardello-Petersen R, Flood VH, Connell NT, James PD, Mustafa RA
Blood Adv 2022 Jan 11;6(1):62-71. doi: 10.1182/bloodadvances.2021005430. PMID: 34610118 Free PMC Article

The Use of Total Thrombus Formation Analysis System as a Tool to Assess Platelet Function in Bleeding and Thrombosis Risk-A Systematic Review.

Sikora J, Karczmarska-Wódzka A, Bugieda J, Sobczak P
Int J Mol Sci 2021 Aug 10;22(16) doi: 10.3390/ijms22168605. PMID: 34445311 Free PMC Article

Role of angiogenesis in adenomyosis-associated abnormal uterine bleeding and subfertility: a systematic review.

Harmsen MJ, Wong CFC, Mijatovic V, Griffioen AW, Groenman F, Hehenkamp WJK, Huirne JAF
Hum Reprod Update 2019 Sep 11;25(5):647-671. doi: 10.1093/humupd/dmz024. PMID: 31504506 Free PMC Article

Hemostatic Abnormalities in Dementia: A Systematic Review and Meta-Analysis.

Loures CMG, Duarte RCF, Silva MVF, Cicarini WB, de Souza LC, Caramelli P, Borges KBG, Carvalho MDG
Semin Thromb Hemost 2019 Jul;45(5):514-522. Epub 2019 May 16 doi: 10.1055/s-0039-1688444. PMID: 31096308

The role of endothelial cells in the vasculopathy of systemic sclerosis: A systematic review.

Mostmans Y, Cutolo M, Giddelo C, Decuman S, Melsens K, Declercq H, Vandecasteele E, De Keyser F, Distler O, Gutermuth J, Smith V
Autoimmun Rev 2017 Aug;16(8):774-786. Epub 2017 May 29 doi: 10.1016/j.autrev.2017.05.024. PMID: 28572048

See all (5)

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Abnormality of von Willebrand factor

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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