Presentation
The propositus presented with mild basal thrombocytopenia with ristocetin-induced platelet aggregation (RIPA) at low concentrations of ristocetin. [link.springer.com]
We describe a newborn with a VWD type 2B due to the heterozygous missense mutation V1316M who presented the atypical feature of giant platelets in peripheral blood. [moh-it.pure.elsevier.com]
The current pregnancy had a breech presentation, for which the patient was scheduled for a cesarean delivery. [anesthesiology.pubs.asahq.org]
Entire Body System
- Vietnamese
Case reports CASE 1 The patient, now 8 years old, was the first son of a healthy Vietnamese couple with no bleeding history. At the age of 2 years he was admitted to hospital with severe bleeding and platelet count of 25 × 10 9 /l. [adc.bmj.com]
- Inguinal Hernia
Despite platelet transfusion a major haemorrhagic episode occurred in our patient after surgery for an inguinal hernia. [adc.bmj.com]
Respiratoric
- Aspiration
Laboratory findings showed normal immunoglobulin concentrations, normal leucocyte and erythrocyte counts, and bone marrow aspirate showed a normal number of megakariocytes. [adc.bmj.com]
Urogenital
- Vaginal Bleeding
Four weeks after her last dose of vWF, she complained of heavy vaginal bleeding. She was treated with vWF replacement 60 IU/kg, followed by 30 IU/kg daily for two days. Tranexamic acid was restarted and she achieved good control of her bleeding. [ashclinicalnews.org]
Workup
Initial Von Willebrand Disease Assays If the patient has a significant history of mucocutaneous bleeding, VWD assays should be included as part of the initial workup. [arupconsult.com]
Clinical Testing and Workup Individuals may undergo standard blood screening tests including a complete blood count (CBC), which may be normal or may show microcytic anemia or low platelet count, especially in individuals with VWD type 2B. [rarediseases.org]
Causes, etiology and diagnosis of acquired von Willebrand disease: a prospective diagnostic workup to establish the most effective therapeutic strategies. [ncbi.nlm.nih.gov]
Treatment
Following inefficient treatment of four platelet transfusions, immunoglobulins, and corticosteroids, we initiated treatment with a thrombopoietin (TPO) receptor agonist (eltrombopag 25 mg/d) with a good efficacy. [ncbi.nlm.nih.gov]
Goals for maintenance treatment after delivery by C-section are a vWF:RCo greater than 50 percent and platelet count greater than 20,000/µL for at least five days. [ashclinicalnews.org]
The treatment appeared to be safe and bleeding ceased immediately. [adc.bmj.com]
Replacement therapy with factor VIII/VWF concentrates is the most effective approach to prevention and treatment of bleeding in type 2B VWD. [jhu.pure.elsevier.com]
Prognosis
Prognosis For patients managed within specialized hemostasis and thrombosis hospital centers, the prognosis is favorable, even for those with the most severe forms of the disease. [orpha.net]
Prognosis Consider these steps to reduce your child's risk for bleeding and live a healthier life: Avoid giving your child blood-thinning medications like aspirin and ibuprofen. [stlouischildrens.org]
Prognosis and outcome With a high degree of suspicion for a diagnosis of VWD, timelytesting, and appropriate planning by a multidisciplinaryteam, the prognosis and outcome for VWD during pregnancy are favorable. 6. [cancertherapyadvisor.com]
Prognosis The prognosis for VWD disease is generally fairly good and most individuals have a normal lifespan. The prognosis can depend, however on accurate diagnosis and appropriate medical treatment. [encyclopedia.com]
Bleeding Assessment Tools: Limits and Advantages for the Diagnosis and Prognosis of Inherited Bleeding Disorders. Semin Thromb Hemost. 2016 Jul. 42 (5):463-70. [Medline]. Lavin M, O'Donnell JS. New treatment approaches to von Willebrand disease. [medscape.com]
Etiology
Etiology The disease is caused by mutations in the VWF gene. Genetic counseling Transmission is autosomal dominant. The documents contained in this web site are presented for information purposes only. [orpha.net]
[…] factor VIII has shorter half life and its plasma levels are lower Note: type O patients have lower levels of vWF (75 IU/dl), type AB patients have highest levels (123 IU/dl) ( Blood 1987;69:1691 ); levels increase with age and with acute phase reactions Etiology [pathologyoutlines.com]
Any qualitative or quantitative deficiency of pro-von Willebrand factor will lead to the increased bleeding tendency, and this syndrome is called Von Willebrand disease. [1] [2] [3] Etiology Von Willebrand disease (VWD) can be inherited or acquired. [ [statpearls.com]
In addition, the etiology of the thrombocytopenia is often unclear. [anesthesiology.pubs.asahq.org]
Epidemiology
Epidemiology Prevalence is as high as 1-2% in the general population on unselected screening. Worldwide incidence is around 125 per million with between 0.5 and 5 per million being severely affected. Most patients have mild disease. [patient.info]
Summary Epidemiology The type 2 disease accounts for between 20 and 45% of cases of VWD. Clinical description Age of onset of the bleeding anomalies varies, with earlier onset being associated with more severe VWF deficiency. [orpha.net]
[…] section of this topic is shown below -- Basics Description An inherited bleeding disorder caused by either a quantitative or qualitative defect of the von Willebrand protein Characterized by mucocutaneous bleeding or bleeding after surgical procedures Epidemiology [unboundmedicine.com]
Two large epidemiologic studies have reported prevalence rates of approximately 1%. 2,3 In these studies, healthy school-aged children were screened and diagnosed with VWD based on low VWF activity, measured as ristocetin cofactor, and a personal and [mdedge.com]
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. Medicine (Baltimore). 2016 Mar. 95 (11):e3038. [Medline]. [Full Text]. [medscape.com]
Pathophysiology
Pathophysiology Von Willebrand factor is a large multimeric protein that allows platelets to adhere to sites of endothelial injury, initiating the primary step in hemostasis—formation of the platelet plug. [unboundmedicine.com]
[…] classification of VWD was updated in 2006 ( Table 1 ). 1 It incorporates important aspects of clinical phenotype, pathophysiological mechanisms, and treatment considerations. [mdedge.com]
Von Willebrand Disease Diagnosis Von Willebrand Disease Pathophysiology Von Willebrand Disease Symptoms [news-medical.net]
Pathophysiology The gene encoding the VWF monomer is on chromosome #12. Expression of the mRNA for the VWF monomer is translated into a 280,00 Dalton protein that contains a series of different domains. [cancertherapyadvisor.com]
[…] low FVIII activity and no prior family history of hemophilia A Evaluation of patients with Type 1 or Types 2A, 2B, or 2M VWD with FVIII activity discordantly-lower than the von Willebrand factor antigen level Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]
Prevention
[…] through screening habits Other uses Preventable measures through medical devices Developer Dr. [sequencing.com]
Replacement therapy with factor VIII/VWF concentrates is the most effective approach to prevention and treatment of bleeding in type 2B VWD. [jhu.pure.elsevier.com]
In our patient, infusion of an intermediate purity F VIII/vWF plasma concentrate (Haemate HS) not only prevented bleeding during dental surgery, but also increased platelet counts. [adc.bmj.com]