Edit concept Question Editor Create issue ticket

Von Willebrand Disease Type 2B


Presentation

  • 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]

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]
  • 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

  • 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

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

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]
  • 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]

Prevention

  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!