Symptoma

Von Willebrand Disease Type 2B

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. [ncbi.nlm.nih.gov]

The propositus presented with mild basal thrombocytopenia with ristocetin-induced platelet aggregation (RIPA) at low concentrations of ristocetin. [link.springer.com]

  • 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]

  • Intravenous Administration

    The patients were studied before and after intravenous administration of desmopressin (DDAVP) at doses of 0.4 µg/kg body weight. Automatic sequencing techniques were used to analyze VWF gene exon 28. [link.springer.com]

  • 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]

  • 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]

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]

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]

The treatment appeared to be safe and bleeding ceased immediately. [adc.bmj.com]

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]

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 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]

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]

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]

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]

In addition, the etiology of the thrombocytopenia is often unclear. [anesthesiology.pubs.asahq.org]

[…] 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]

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]

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]

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]

Abstract The knowledge gained from “experiments of nature” has always been paramount in identifying key players in pathophysiologic pathways. This is well characterized by naturally occurring bleeding and thrombotic disorders. [ncbi.nlm.nih.gov]

Von Willebrand Disease Diagnosis Von Willebrand Disease Pathophysiology Von Willebrand Disease Symptoms [news-medical.net]

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]

One or a combination of these medications is usually effective in preventing or stopping excessive bleeding in children with type 1 or 2 von Willebrand disease. [nyulangone.org]

Other treatments may include factor replacement therapy; drugs that help prevent the breakdown of blood clots; and, for women, hormone therapy such as birth control pills. [hemaware.org]