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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.
 
Gene (location): 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.
Intermittent thrombocytopenia
MedGen UID:
374151
Concept ID:
C1839167
Finding
Reduced platelet count that occurs sporadically, i.e., it comes and goes.

Recent clinical studies

Etiology

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

Diagnosis

Grover N, Boama V, Chou MR
BMC Pregnancy Childbirth 2013 Jan 17;13:16. doi: 10.1186/1471-2393-13-16. PMID: 23327637Free PMC Article
Othman M
Blood Rev 2011 Jul;25(4):147-53. Epub 2011 Apr 15 doi: 10.1016/j.blre.2011.03.003. PMID: 21497427
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
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

Therapy

Grover N, Boama V, Chou MR
BMC Pregnancy Childbirth 2013 Jan 17;13:16. doi: 10.1186/1471-2393-13-16. PMID: 23327637Free PMC Article
Poon MC, d'Oiron R
Blood Coagul Fibrinolysis 2000 Apr;11 Suppl 1:S55-68. PMID: 10850567
Kobrinsky NL, Israels ED, Bickis MG
Am J Pediatr Hematol Oncol 1991 Winter;13(4):437-41. doi: 10.1097/00043426-199124000-00008. PMID: 1785670

Clinical prediction guides

Kobrinsky NL, Israels ED, Bickis MG
Am J Pediatr Hematol Oncol 1991 Winter;13(4):437-41. doi: 10.1097/00043426-199124000-00008. PMID: 1785670

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