Linkage analysis demonstrates that dominantly inherited, fully penetrant VWD is present in approximately 50% of type 1 families. [journals.lww.com]

The patient presented in this case had no prior history of trauma, bleeding tendency, or coagulopathy. A diagnosis of VWD type 1 was made after von Willebrand multimer analysis. [ncbi.nlm.nih.gov]

Moderate deficiency of factor VIII (FVIII) may also be present. [orpha.net]

• Easy Bruising

  Von Willebrand disease (VWD) is characterized by bleeding symptoms that result in easy bruising, skin bleeding, prolonged bleeding from mucosal surfaces, heavy menstrual bleeding, and serious bleeding from the gastrointestinal tract. [ncbi.nlm.nih.gov]

  Patients have easy bruising and purpura, usually mucosal, and rarely joint bleeding. Screening tests reveal a normal platelet count, normal INR, and sometimes a slightly prolonged PTT. [merckmanuals.com]

  Bruising People with VWD might experience easy bruising that: Occurs with very little or no trauma or injury Occurs often (one to four times per month) Is larger than the size of a quarter Is not flat and has a raised lump Heavy Menstrual Bleeding Women [cdc.gov]

  Symptoms People with VWD experience frequent nosebleeds, easy bruising and excessive bleeding during and after invasive procedures, such as tooth extractions and surgery. [hemophilia.org]

• Retinal Hemorrhage

  This is the first case reported to have intraretinal hemorrhage only as the first manifestation of VWD type 1. This report demonstrates that patients with spontaneous retinal hemorrhage should be evaluated for a possible bleeding disorder. [ncbi.nlm.nih.gov]

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. Acta Haematol 2009; 121 : 177–182. 84. Nichols WL, Rick ME, Ortel TL, et al. [nature.com]

Guidelines and recommendations for the acute and prophylactic treatment of bleeding in von Willebrand disease (VWD) patients with von Willebrand factor (VWF)/factor VIII (FVIII) concentrates should be based on the analysis of the content of VWF/FVIII [ncbi.nlm.nih.gov]

Management and treatment Medication (such as tranexamic acid for ENT bleeding anomalies and estrogen-progesterone treatment for menorrhagia) provides an effective treatment and may be prescribed alone or as an adjuvant therapy. [orpha.net]

[…] concentrates are the treatment of choice. [emedicine.medscape.com]

[…] injection" for VWD; 4) comparison of two quality of life measures to assess treatment response on each study arm, one specific for bleeding disorders and one specific for menstrual disorders. [clinicaltrials.gov]

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 to live a healthier life: Avoid giving your child blood-thinning medications like aspirin and ibuprofen. [stanfordchildrens.org]

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]

Etiology VWD is caused by mutations in the VWF gene (12p13.3). The anomalies responsible for type 1 VWD generally lead to intracellular retention or rapid clearance of VWF from the circulation. [orpha.net]

License: CC BY 2.0 Etiology of von Willebrand Disease Classification of the von Willebrand disease Many forms of vWD are hereditary: Type 1 Autosomal dominant 75 % of patients, varies mild to severe Type 2A Autosomal dominant 15 % of disease, moderate [lecturio.com]

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

The problem may be avoided by substituting an empirical epidemiologic approach like that applied to other modest risk factors for disease such as elevated cholesterol and high blood pressure. [ncbi.nlm.nih.gov]

Summary Epidemiology The type 1 disease is considered to be the most common form of VWD, accounting for between 50 and 75% of cases but its prevalence is probably overestimated. [orpha.net]

Such an epidemiologic approach is appropriate for risk factors that are not, by themselves, managed as qualitative disease categories. [bloodjournal.org]

Image : “The pathophysiology of acquired von Willebrand’s Disease type 2A (vWD-2A) from an aortic stenosis (Heyde’s Syndrome).” by Michael D. Dacre. [lecturio.com]

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

Clearly organized into procedure- and patient-related sections while offering a balanced combination of pathophysiology and applications, this practical resource integrates technical experience with clinical results. [books.google.ro]

[…] 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]

Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4:2103-2114. [hematology.org]

Preventing bleeding episodes Some medicines affect blood clotting. Speak to a doctor before taking some OTC medications. [medicalnewstoday.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]

Preventing bleeding before dental procedures or surgery People with type 1 VWD can usually be treated with [ desmopressin] before dental procedures or surgery. [your.md]

If you have von Willebrand disease (VWD), you can take steps to prevent bleeding and stay healthy. [nhlbi.nih.gov]