Symptoma

Von Willebrand Disease Type 1

Von Willebrand's Disease Type 1

In recent years, it has been demonstrated that this type of inheritance is also present in some type 1 and 2 families, previously considered the epitome of true dominant transmission. [ncbi.nlm.nih.gov]

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

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]

    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]

    They will have all of the bleeding symptoms that we would expect to see in a person with type 1 or type 2, which include easy bruising, excessive bleeding from a cut, frequent nosebleeds, bleeding gums - especially after visiting the dentist, blood in [study.com]

    The most common symptoms that occur in all three types include: easy bruising excessive nose bleeds bleeding from your gums abnormally heavy bleeding during menstruation Type 3 is the most severe form of the condition. [healthline.com]

  • Liver Dysfunction

    Her history was notable for chronic hepatitis C, with no associated liver dysfunction, resulting from a blood transfusion and type 2B vWD, which was diagnosed as a child because of a strong family history (grandmother, mother, uncle, and brother) of type [anesthesiology.pubs.asahq.org]

  • 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. 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]

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]

Prognosis Type 1 VWD is generally not life-threatening and does not lead to functional impairment. The documents contained in this web site are presented for information purposes only. [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]

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

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]

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]

Epidemiological investigation of the prevalence of von Willebrand's disease. Blood, 69, 454 - 459. Google Scholar Medline ISI Rodeghiero, F., Castaman, G., & Tosseto, A. ( 1990 ). [journals.sagepub.com]

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

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]

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

[…] 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]

Congenital von Willebrand disease type 3: Clinical manifestations, pathophysiology and molecular biology. Best Practice & Research Clinical Haematology, 14(2), 365 - 379. Google Scholar Crossref Medline ISI Eikenboom, J. C., Todashi, M., Reitsma, P. [journals.sagepub.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]

Desmopressin (which triggers a transitory release of endogenous VWF stored in the epithelial cells) may be administered in cases when a specific curative or preventative treatment is required. [orpha.net]

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]