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Reduced von Willebrand factor activity

MedGen UID:
870263
Concept ID:
C4024701
Finding
Synonym: Decreased von willebrand factor activity
 
HPO: HP:0008330

Definition

Decreased 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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Reduced von Willebrand factor activity

Conditions with this feature

Gray platelet syndrome
MedGen UID:
82900
Concept ID:
C0272302
Disease or Syndrome
The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007). Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.
von Willebrand disease type 3
MedGen UID:
266075
Concept ID:
C1264041
Disease or Syndrome
Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Recent guidelines on VWD have recommended taking a VWF level of 30 or 40 IU/dL as a cutoff for those diagnosed with the disorder. Individuals with VWF levels greater than 30 IU/dL and lower than 50 IU/dL can be described as having a risk factor for bleeding. This change in guidelines significantly alters the proportion of individuals with each disease type. Type 1 VWD (~30% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 60% of VWD. Type 2 subtypes include: Type 2A, which usually manifests as mild-to-moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild-to-moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<10% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding.
Ehlers-Danlos syndrome, classic-like, 3
MedGen UID:
1861383
Concept ID:
C5935631
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-3 (EDSCLL3) is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture (Hadar et al., 2024). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classificiation of Ehlers-Danlos syndrome, see EDSCL1 (130000).

Professional guidelines

PubMed

Matsumoto M, Miyakawa Y, Kokame K, Ueda Y, Wada H, Higasa S, Yagi H, Ogawa Y, Sakai K, Miyata T, Morishita E, Fujimura Y; For TTP group of Blood Coagulation Abnormalities Research Study Team, Research on Rare and Intractable diseases, Health and Labour Sciences Research Grants from the Ministry of Health, Labour and Welfare of Japan
Int J Hematol 2023 Nov;118(5):529-546. Epub 2023 Sep 10 doi: 10.1007/s12185-023-03657-0. PMID: 37689812Free PMC Article
Kubo M, Matsumoto M
Int J Hematol 2023 Mar;117(3):331-340. Epub 2023 Feb 9 doi: 10.1007/s12185-023-03552-8. PMID: 36757521
Connell NT, Flood VH, Brignardello-Petersen R, Abdul-Kadir R, Arapshian A, Couper S, Grow JM, Kouides P, Laffan M, Lavin M, Leebeek FWG, O'Brien SH, Ozelo MC, Tosetto A, Weyand AC, James PD, Kalot MA, Husainat N, Mustafa RA
Blood Adv 2021 Jan 12;5(1):301-325. doi: 10.1182/bloodadvances.2020003264. PMID: 33570647Free PMC Article

Recent clinical studies

Etiology

Dargaud Y, Leuci A, Ruiz AR, Lacroix-Desmazes S
Haematologica 2024 Aug 1;109(8):2436-2444. doi: 10.3324/haematol.2023.284498. PMID: 38356459Free PMC Article
Matsumoto M, Miyakawa Y, Kokame K, Ueda Y, Wada H, Higasa S, Yagi H, Ogawa Y, Sakai K, Miyata T, Morishita E, Fujimura Y; For TTP group of Blood Coagulation Abnormalities Research Study Team, Research on Rare and Intractable diseases, Health and Labour Sciences Research Grants from the Ministry of Health, Labour and Welfare of Japan
Int J Hematol 2023 Nov;118(5):529-546. Epub 2023 Sep 10 doi: 10.1007/s12185-023-03657-0. PMID: 37689812Free PMC Article
Beckman JD, DaSilva A, Aronovich E, Nguyen A, Nguyen J, Hargis G, Reynolds D, Vercellotti GM, Betts B, Wood DK
J Thromb Haemost 2023 May;21(5):1366-1380. Epub 2023 Feb 2 doi: 10.1016/j.jtha.2023.01.027. PMID: 36738826Free PMC Article
Castaman G, James PD
Eur J Haematol 2019 Aug;103(2):73-79. Epub 2019 May 31 doi: 10.1111/ejh.13250. PMID: 31107984Free PMC Article
Peyvandi F, Scully M, Kremer Hovinga JA, Cataland S, Knöbl P, Wu H, Artoni A, Westwood JP, Mansouri Taleghani M, Jilma B, Callewaert F, Ulrichts H, Duby C, Tersago D; TITAN Investigators
N Engl J Med 2016 Feb 11;374(6):511-22. doi: 10.1056/NEJMoa1505533. PMID: 26863353

Diagnosis

Matsumoto M, Miyakawa Y, Kokame K, Ueda Y, Wada H, Higasa S, Yagi H, Ogawa Y, Sakai K, Miyata T, Morishita E, Fujimura Y; For TTP group of Blood Coagulation Abnormalities Research Study Team, Research on Rare and Intractable diseases, Health and Labour Sciences Research Grants from the Ministry of Health, Labour and Welfare of Japan
Int J Hematol 2023 Nov;118(5):529-546. Epub 2023 Sep 10 doi: 10.1007/s12185-023-03657-0. PMID: 37689812Free PMC Article
Kubo M, Matsumoto M
Int J Hematol 2023 Mar;117(3):331-340. Epub 2023 Feb 9 doi: 10.1007/s12185-023-03552-8. PMID: 36757521
Connell NT, Flood VH, Brignardello-Petersen R, Abdul-Kadir R, Arapshian A, Couper S, Grow JM, Kouides P, Laffan M, Lavin M, Leebeek FWG, O'Brien SH, Ozelo MC, Tosetto A, Weyand AC, James PD, Kalot MA, Husainat N, Mustafa RA
Blood Adv 2021 Jan 12;5(1):301-325. doi: 10.1182/bloodadvances.2020003264. PMID: 33570647Free PMC Article
Castaman G, James PD
Eur J Haematol 2019 Aug;103(2):73-79. Epub 2019 May 31 doi: 10.1111/ejh.13250. PMID: 31107984Free PMC Article
Yasar SJ, Abdullah O, Fay W, Balla S
J Interv Cardiol 2018 Jun;31(3):360-367. Epub 2017 Dec 28 doi: 10.1111/joic.12478. PMID: 29285810

Therapy

Dargaud Y, Leuci A, Ruiz AR, Lacroix-Desmazes S
Haematologica 2024 Aug 1;109(8):2436-2444. doi: 10.3324/haematol.2023.284498. PMID: 38356459Free PMC Article
Kubo M, Matsumoto M
Int J Hematol 2023 Mar;117(3):331-340. Epub 2023 Feb 9 doi: 10.1007/s12185-023-03552-8. PMID: 36757521
Bauer AT, Gorzelanny C, Gebhardt C, Pantel K, Schneider SW
Cancer Treat Rev 2022 Jan;102:102322. Epub 2021 Dec 1 doi: 10.1016/j.ctrv.2021.102322. PMID: 34922151
Groeneveld D, Cline-Fedewa H, Baker KS, Williams KJ, Roth RA, Mittermeier K, Lisman T, Palumbo JS, Luyendyk JP
J Hepatol 2020 Jan;72(1):146-155. Epub 2019 Oct 10 doi: 10.1016/j.jhep.2019.09.030. PMID: 31606553Free PMC Article
Peyvandi F, Scully M, Kremer Hovinga JA, Cataland S, Knöbl P, Wu H, Artoni A, Westwood JP, Mansouri Taleghani M, Jilma B, Callewaert F, Ulrichts H, Duby C, Tersago D; TITAN Investigators
N Engl J Med 2016 Feb 11;374(6):511-22. doi: 10.1056/NEJMoa1505533. PMID: 26863353

Prognosis

Emirova KM, Orlova OM, Chichuga EM, Muzurov AL, Avdonin PP, Avdonin PV
Biomolecules 2023 Nov 20;13(11) doi: 10.3390/biom13111671. PMID: 38002352Free PMC Article
Elek Z, Losoncz E, Maricza K, Fülep Z, Bánlaki Z, Kovács-Nagy R, Keszler G, Rónai Z
Genes (Basel) 2023 Feb 28;14(3) doi: 10.3390/genes14030617. PMID: 36980889Free PMC Article
Arreola-Diaz R, Majluf-Cruz A, Sanchez-Torres LE, Hernandez-Juarez J
Clin Appl Thromb Hemost 2022 Jan-Dec;28:10760296221088576. doi: 10.1177/10760296221088576. PMID: 35317658Free PMC Article
Casa LDC, Ku DN
Annu Rev Biomed Eng 2017 Jun 21;19:415-433. Epub 2017 Apr 24 doi: 10.1146/annurev-bioeng-071516-044539. PMID: 28441034
Shahidi M
Adv Exp Med Biol 2017;906:285-306. doi: 10.1007/5584_2016_122. PMID: 27628010

Clinical prediction guides

Ngo AT, Skidmore A, Oberg J, Yarovoi I, Sarkar A, Levine N, Bochenek V, Zhao G, Rauova L, Kowalska MA, Eckart K, Mangalmurti NS, Rux A, Cines DB, Poncz M, Gollomp K
JCI Insight 2023 Nov 22;8(22) doi: 10.1172/jci.insight.171054. PMID: 37991024Free PMC Article
Bauer AT, Gorzelanny C, Gebhardt C, Pantel K, Schneider SW
Cancer Treat Rev 2022 Jan;102:102322. Epub 2021 Dec 1 doi: 10.1016/j.ctrv.2021.102322. PMID: 34922151
Groeneveld D, Cline-Fedewa H, Baker KS, Williams KJ, Roth RA, Mittermeier K, Lisman T, Palumbo JS, Luyendyk JP
J Hepatol 2020 Jan;72(1):146-155. Epub 2019 Oct 10 doi: 10.1016/j.jhep.2019.09.030. PMID: 31606553Free PMC Article
Castaman G, James PD
Eur J Haematol 2019 Aug;103(2):73-79. Epub 2019 May 31 doi: 10.1111/ejh.13250. PMID: 31107984Free PMC Article
Shahidi M
Adv Exp Med Biol 2017;906:285-306. doi: 10.1007/5584_2016_122. PMID: 27628010

Recent systematic reviews

Budhipramono A, Sharma R, Wysocki CA, Zia AN, Adkins BD
J Clin Apher 2024 Dec;39(6):e22154. doi: 10.1002/jca.22154. PMID: 39511768
Arisz RA, de Vries JJ, Schols SEM, Eikenboom JCJ, de Maat MPM
Blood Adv 2022 Jul 12;6(13):3979-3990. doi: 10.1182/bloodadvances.2021006405. PMID: 35816358Free PMC Article
van der Zee P, Rietdijk W, Somhorst P, Endeman H, Gommers D
Crit Care 2020 May 24;24(1):243. doi: 10.1186/s13054-020-02913-7. PMID: 32448370Free PMC Article
Thompson G, Davison GW, Crawford J, Hughes CM
J Sports Sci 2020 Apr;38(7):814-826. Epub 2020 Mar 4 doi: 10.1080/02640414.2020.1735684. PMID: 32129713

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