Pseudo von Willebrand disease(VWDP)

MedGen UID:: 226914
•Concept ID:: C1280798
•: Disease or Syndrome

Synonyms:	BLEEDING DISORDER, PLATELET-TYPE, 3; Platelet-type von Willebrand disease; VWDP
SNOMED CT:	Pseudo von Willebrand disease (128115005); von Willebrand disease, platelet type (128105004); Platelet type-von Willebrand disease (128115005); Pseudo-von Willebrand disease type 2B (128115005); PT-VWD - platelet type-von Willebrand disease (128115005); Platelet type pseudo-von Willebrand disease (128115005)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GP1BA (17p13.2)

Monarch Initiative:	MONDO:0008332
OMIM®:	177820
Orphanet:	ORPHA52530

Definition

Platelet-type von Willebrand disease (VWDP), also known as pseudo-von Willebrand disease, is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation (Murata et al., 1993). Miller (1996) gave a comprehensive review of the disorder. [from OMIM]

Clinical features

From HPO

Prolonged bleeding time

MedGen UID:: 56231
•Concept ID:: C0151529
•: Finding

Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.

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Intermittent thrombocytopenia

MedGen UID:: 374151
•Concept ID:: C1839167
•: Finding

Reduced platelet count that occurs sporadically, i.e., it comes and goes.

See: Feature record | Search on this feature

Abnormality of blood and blood-forming tissues
- Intermittent thrombocytopenia
- Prolonged bleeding time

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Hemorrhagic disorder due to a qualitative platelet defect
- Pseudo von Willebrand disease

Follow this link to review classifications for Pseudo von Willebrand disease in Orphanet.

Professional guidelines

PubMed

Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group.

Poon MC, d'Oiron R
Blood Coagul Fibrinolysis 2000 Apr;11 Suppl 1:S55-68. PMID: 10850567

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Recent clinical studies

Etiology

Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group.

Poon MC, d'Oiron R
Blood Coagul Fibrinolysis 2000 Apr;11 Suppl 1:S55-68. PMID: 10850567

See all (1)

Diagnosis

Pseudo (platelet-type) von Willebrand disease in pregnancy: a case report.

Grover N, Boama V, Chou MR
BMC Pregnancy Childbirth 2013 Jan 17;13:16. doi: 10.1186/1471-2393-13-16. PMID: 23327637 Free PMC Article

Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder.

Othman M
Blood Rev 2011 Jul;25(4):147-53. Epub 2011 Apr 15 doi: 10.1016/j.blre.2011.03.003. PMID: 21497427

Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance.

Enayat MS, Guilliatt AM, Lester W, Wilde JT, Williams MD, Hill FG
Br J Haematol 2006 Jun;133(6):664-6. doi: 10.1111/j.1365-2141.2006.06078.x. PMID: 16704444

De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease.

Kunishima S, Heaton DC, Naoe T, Hickton C, Mizuno S, Saito H, Kamiya T
Blood Coagul Fibrinolysis 1997 Jul;8(5):311-5. doi: 10.1097/00001721-199707000-00009. PMID: 9282797

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