Presentation
Acronym VWDP Synonyms BDPLT3 Bleeding disorder platelet-type 3 Pseudo-vWD von Willebrand disease platelet-type Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
[…] type-von Willebrand disease Pseudo-von Willebrand disease type 2B Prevalence: 1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: - ICD-10: D69.8 OMIM: 177820 UMLS: C1280798 MeSH: - GARD: 8312 MedDRA: - The documents contained in this web site are presented [orpha.net]
Hereditary deficit of the release reaction: 1. with absent granulations (grey platelet syndrome) 2. with present granulations and activation abnormalities. Aggregation to ADP, collagen, arachidonic acid, and ristocetin 1. [medichub.ro]
Hematological
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Hemophilia A
Entry H02093 Disease Name Platelet-type von Willebrand disease; Pseudo-von Willebrand disease Supergrp Hemophilia [DS:H00219] Description Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function [genome.jp]
Hemophilia a Hemophilia B Hemorrhagic Disease Hemorrhagic Fever Hemorrhagic Fever with Renal Syndrome Hemosiderosis Henoch-Schoenlein Purpura Heparin-Induced Thrombocytopenia Hepatic Adenomas, Familial Hepatic Encephalopathy Hepatic Infarction Hepatic [eutopia.school]
Diagnosis The best place for patients with bleeding disorders to be diagnosed and treated is at one of the federally-funded hemophilia treatment centers (HTCs) that are spread throughout the country. [hemophilia.org]
Protocols for the treatment of hemophilia and von Willebrand disease. 3th ed., Haemophilia of Georgia, (2008), pp. 84-93 [6] C.L. Verweij, C.J. de Vries, B. Distel, A.J. van Zonneveld, A.G. van Kessel, J.A. van Mourik, et al. [elsevier.es]
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Prolonged Bleeding
Showing of 3 Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Intermittent thrombocytopenia 0004854 Prolonged bleeding time 0003010 Showing of 3 [rarediseases.info.nih.gov]
bleeding after spot grinding or extractions. [elsevier.es]
Entire Body System
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Physician
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s. VWD is the most common bleeding disorder, affecting up to 1% of the US population. [hemophilia.org]
Am Fam Physician, 80 (2009), pp. 1261-1268 [35] C. Mazurier, D. Meyer. Factor VIII binding assay of von Willebrand factor and the diagnosis of type 2N von Willebrand disease-results of an international survey. [elsevier.es]
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Ecchymosis
The manifestations of the disease are mucosal cutaneous bleedings (epistaxis, bleeding gums, bleeding of other mucosa, ecchymosis, bleeding in dental procedures, etc.). [elsevier.es]
Cardiovascular
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Thrombosis
and Protein-Losing Enteropathy Congenital Bile Acid Synthesis Defect Congenital Disorder of Glycosylation, Type Iic Congenital Syphilis Conjunctivitis Connective Tissue Disease Cork-Handlers' Disease Corneal Ulcer Coronary Thrombosis Cortical Blindness [eutopia.school]
Modern investigation methods are applied here with the purpose of assessing both the bleeding risk and the thrombosis risk. [medichub.ro]
A revised classification of von Willebrand disease for the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. [elsevier.es]
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Heart Disease
This type of VWD in adults results after a diagnosis of an autoimmune disease, such as lupus, or from heart disease or some types of cancer. It can also occur after taking certain medications. [hemophilia.org]
Skin
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Purpura
[…] disease Brite Human diseases [BR:br08402] Cardiovascular diseases Hematologic diseases H02093 Platelet-type von Willebrand disease Human diseases in ICD-11 classification [BR:br08403] 03 Diseases of the blood or blood-forming organs Coagulation defects, purpura [genome.jp]
Autoimmune Thrombocytosis Thrombophilia Thrombophilia Due to Activated Protein C Resistance Thrombophilia Due to Thrombin Defect Thrombophlebitis Thrombosis Thrombotic Thrombocytopenic Purpura Thrombotic Thrombocytopenic Purpura, Acquired Thrombotic [eutopia.school]
Face, Head & Neck
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Epistaxis
The manifestations of the disease are mucosal cutaneous bleedings (epistaxis, bleeding gums, bleeding of other mucosa, ecchymosis, bleeding in dental procedures, etc.). [elsevier.es]
Neurologic
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Hyperactivity
Journal Proc Natl Acad Sci U S A 88:4761-5 (1991) DOI:10.1073/pnas.88.11.4761 Reference PMID:8384898 Authors Russell SD, Roth GJ Title Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface [genome.jp]
Workup
Serum
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Thrombocytosis
Cancer Testicular Infarct Testicular Torsion Thalassemia Thrombasthenia Thrombocythemia 1 Thrombocytopenia Thrombocytopenia 3 Thrombocytopenia-Absent Radius Syndrome Thrombocytopenia Due to Platelet Alloimmunization Thrombocytopenic Purpura, Autoimmune Thrombocytosis [eutopia.school]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Treatment Treatment for VWD depends on the diagnosis and severity. The mainstay of treatment is DDAVP (desmopressin acetate), the synthetic version of a natural hormone vasopressin. [hemophilia.org]
Epidemiology
Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost, 82 (1999), pp. 1065-1070 [21] E.J. Favaloro. [elsevier.es]
Pathophysiology
Journal N Engl J Med 306:326-33 (1982) DOI:10.1056/NEJM198202113060603 Reference PMID:23934752 Authors Othman M, Kaur H, Emsley J Title Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect. [genome.jp]
Prevention
Aminocaproic acid and tranexamic acid are antifibrinolytics agents that prevent the breakdown of blood clots. These drugs are often recommended before dental procedures, to treat nose and mouth bleeds, and for menorrhagia. [hemophilia.org]
[…] evidence provides precise information on the mechanisms of the disease and the risk of bleeding associated with the deficiency or abnormality of the VWF.43Treatment The treatment depends on the subtype of the von Willebrand disease; however, therapies to prevent [elsevier.es]