Symptoma

Von Willebrand Disease Type 2A

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The simulations presented here were performed with a crystallographic structure which does not contain any bound calcium ion. [ncbi.nlm.nih.gov]

If a restriction enzyme digestion site is not present, testing will be done by sequencing the exon in which the mutation is located Sample Requirements EDTA (lavender top) Requested Volume 5-10cc EDTA (lavender top) tube Analysis of amniocytes can be [bloodworksnw.org]

The reason for the heterogeneous extent of reduced thrombogenicity in type 2B patients is presently unclear but most likely reflects different type 2B mutations in aberrant VWF that have diverse binding affinities for platelet GP Ib α. [bloodjournal.org]

Because this gene alteration is not present in his parents or in 50 normal and 25 affected subjects, and the restriction fragment length polymorphism haplotypes are inherited normally in the patient's family, we suggest that a de novo mutation is present [sveb.unife.it]

  • Collapse

    In preliminary experiments, the entire fixation process in perfusion of blood containing mepacrine-labeled platelets was observed in real time by epifluorescence microscopy to confirm fixation of the generated platelet thrombi without collapse or detachment [bloodjournal.org]

  • Chronic Fatigue Syndrome

    fatigue syndrome (CFS), fibromyalgia, restless leg syndrome, an inflammatory disease called sarcoidosis, schizophrenia, migraine and other headaches, age-related vision loss, benign prostatic hyperplasia (BPH), irritable bowel syndrome (IBS), bone loss [hinosesubs.ga]

  • Aspiration

    […] was assembled and mounted on a microscope (BX60, Olympus, Tokyo, Japan) equipped with epifluorescent illumination (BX-FLA, Olympus) and a CCD camera system (U-VPT-N, Olympus) as described. 17-19 Whole blood containing mepacrine-labeled platelets was aspirated [bloodjournal.org]

    Nucleated cells from peripheral blood and bone marrow aspirates were cultured for 24 and 48 hours, without addition of phytohemaglutinin but with methotrexate treatment of the cultures. [omicsonline.org]

  • Regurgitation

    Moderate and severe aortic stenosis, severe aortic regurgitation, severe mitral regurgitation, hypertrophic obstructive cardiomyopathy, congenital heart diseases, left ventricular assist devices, and other vascular lesions also frequently induce acquired [jamanetwork.com]

    One month after surgery, the deficit had resolved, in all but the patients who had aortic valve prosthesis mismatch. 50 consecutive patients with severe mitral regurgitation were studied at the same time, but no differences in pre- and postoperative vWF [ganfyd.org]

  • Excitement

    Excitation at 505nm 5nm was used for FRET measurements and band pass filters for the excitation and emission were 335-620nm and 430-1100nm, respectively. [journals.plos.org]

    Cy2 fluorescence (green) was examined at an excitation wavelength of 488 nm with a barrier filter at 500 nm, whereas Cy3 fluorescence (orange) was at an excitation wavelength of 529 nm with a barrier filter at 550 nm to assess the distribution of fibrinogen [bloodjournal.org]

  • Rabies

    Thromb Haemost 1992; 67: 612-617 17 Inbal A, Seligsohn U, Kombrot N, Brenner B, Harrison P, Randi A, Rabi-nowitz I, Sadler JE. Characterization of three mutations causing von Willebrand disease type IIA in five unrelated families. [thieme-connect.com]

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]

An initial hemostasis workup often includes a complete blood count and routine coagulation studies including APTT, PT, and fibrinogen. [clinlabnavigator.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]

  • Mural Thrombus

    These observations clearly indicate the critical involvement of larger VWF multimers in mural thrombus generation on a collagen surface under flow conditions with high shear rates. Fig. 2. [bloodjournal.org]

    thrombus growth under whole blood flow conditions. [researchmap.jp]

Such transient complete responses to desmopressin (DDAVP) lasting only a few hours may facilitate treatment and prophylaxis of minor bleedings, but may not be able to prevent bleeding during minor and major surgery. [ncbi.nlm.nih.gov]

Sadler JE, Mannucci PM, Bentorp E, Bochkov N, Boulyjenkov V, Ginsburg D, Meyer D, Peake I, Rodeghiero F, Srivastava A: Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000;84:160–174. [karger.com]

The incidence rate of spontaneous bleeding requiring treatment was 107/100 patient-years (95% CI, 88.3-131) in VWD2A compared with 40/100 patient-years (95% CI, 30-53) in VWD2M (P AB - Background: Type 2A and 2M von Willebrand disease (VWD2A and VWD2M [moh-it.pure.elsevier.com]

While diagnostic and treatment criteria remain to be rigorously defined, pathophysiologic knowledge will help guide clinical recognition and management. [jamanetwork.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]

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 is generally good, and most individuals have a normal lifespan. The prognosis can depend, however, on accurate diagnosis and appropriate medical treatment. Prevention There is no known way to prevent VWD. [healthofchildren.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 Type 2A VWD is caused by mutations in the VWF gene and four mechanistic variants (IIA, IIC, IID, IIE) have been identified, although the clinical significance of this heterogeneity remains unclear. [orpha.net]

Others suggest that an acquired von Willebrand syndrome (type 2A) associated with aortic valve stenosis is the etiology of the patients' bleeding 3. Aortic valve replacement may decrease the risk of hemorrhage 4. [radiopaedia.org]

Unlike this exceedingly rare syndrome, acquired type 2A von Willebrand syndrome is a relatively common and typically unrecognized life-threatening condition with a similar etiology. 2 Acquired type 2A von Willebrand syndrome also arises from blood flow [jamanetwork.com]

[…] 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]

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]

Molecular epidemiology per type of VWD VWD type 1 was diagnosed in 159 patients. In total, 216 variants were identified in 146 patients (91.8%; Online Supplementary Table S3 ). [haematologica.org]

Oxford, UK: Blackwell Publishing; von Willebrand disease: epidemiology.2005; pp. 265-71. [panafrican-med-journal.com]

Epidemiology Von Willebrand disease is estimated to affect approximately 1% of the unselected population, but clinically significant disease prevalence is estimated to be about 125 per million, with severe disease affecting up to five per million. [statpearls.com]

While diagnostic and treatment criteria remain to be rigorously defined, pathophysiologic knowledge will help guide clinical recognition and management. [jamanetwork.com]

Ingerslev J, Lee CA, Lillicrap D, Mannucci PM, Mazurier C, Meyer D, Nichols WL, Nishino M, Peake IR, Rodeghiero F, Schneppenheim R, Ruggeri ZM, Srivastava A, Montgomery RR, Federici AB, Working Party on von Willebrand Disease Classification: Update on the pathophysiology [karger.com]

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]

Such transient complete responses to desmopressin (DDAVP) lasting only a few hours may facilitate treatment and prophylaxis of minor bleedings, but may not be able to prevent bleeding during minor and major surgery. [ncbi.nlm.nih.gov]

The induced clotting dysfunction disrupts the hemostatic mechanism that prevents common underlying vascular lesions from bleeding. This is particularly true for vascular malformations that also have high local shear stress (eg, angiodysplasia). [jamanetwork.com]

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

There is no way to prevent Von Willebrand Disease. It is an inherited disorder and can not be prevented. At this time, there is no cure, but research in gene therapy may provide a cure for those with severe disease in the future. [nationwidechildrens.org]