Presentation
Men and boys who present with bleeding associated with low factor VIII levels and normal von Willebrand studies are assumed to have hemophilia A until proven otherwise. [pennstate.pure.elsevier.com]
A 34-year-old woman at the 39th week of her second pregnancy was admitted for an active labor of a single fetus in cephalic presentation. The patient had been diagnosed with type II vWD by a hematologist during her first pregnancy. [ncbi.nlm.nih.gov]
In total, 13 new patients with type 2N VWD were identified, four of whom initially presented with normal levels of factor VIII and only… CONTINUE READING [semanticscholar.org]
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]
Gastrointestinal
- Gagging
Direct sequencing of the abnormal band showed a G to A substitution at nt 2354, which modifies the encoded aa residue from glycine (GGG) to glutamic acid (GAG) at position 22 of the mature vWF subunit. [bloodjournal.org]
Workup
This emphasizes the need for inclusion of the factor VIII binding assay in the diagnostic workup of suspected haemophilia A. [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]
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]
Treatment
If people do need treatment at times, there are several treatments available. Which treatments will be used on particular occasions will depend on the person’s medical needs, what works best for them and the situation. [haemophilia.org.au]
Screening for disorders of hemostasis before starting hormonal treatment is recommended because treatment may interfere with the results and combined oral contraceptive treatment should be interrupted for accurate von Willebrand disease testing. [acog.org]
Myth: There’s no treatment for VWD symptoms. Fact: Treatments are available to help control bleeding. [hemaware.org]
Hematologic or coagulation issues Because all treatment for VWD has a potential thrombotic risk, treatment should be used judiciously. K. Dementia or psychiatric illness/treatment No change in standard management. V. Transitions of Care A. [clinicaladvisor.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]
Prognosis and patient counseling. [clinicaladvisor.com]
Bleeding Assessment Tools: Limits and Advantages for the Diagnosis and Prognosis of Inherited Bleeding Disorders. Semin Thromb Hemost. 2016 Jul. 42 (5):463-70. Gill JC, Castaman G, Windyga J, Kouides P, Ragni M, Leebeek FW, et al. [labtestsonline.it]
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]
What should you tell the patient and the family about prognosis? The prognosis for most patients with VWD is favorable, provided their bleeding is treated and prevented appropriately. [cancertherapyadvisor.com]
Etiology
Etiology Type 2N VWD is caused by mutations in the VWF gene. Diagnostic methods Diagnosis is confirmed by demonstration of a profound decrease or absence of VWF binding capacity for FVIII. [orpha.net]
[…] 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]
Causes, etiology and diagnosis of acquired von Willebrand disease: a prospective diagnostic workup to establish the most effective therapeutic strategies. [ncbi.nlm.nih.gov]
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]
Epidemiology
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 prevalence of VWD in the general population is estimated at between 0.1 and 1% (including all forms) depending on the study, but the prevalence of symptomatic VWD that requires specific treatment is estimated at between 1/50,000 [orpha.net]
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]
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 The prevalence of vWD is about 1 in 100 individuals.[4] However the majority of these people do not have symptoms. [sites.google.com]
Pathophysiology
Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol 2001;14:337–347. 11. Simon D, Roisenberg I. [synapse.koreamed.org]
[…] classification of VWD was updated in 2006 ( Table 1 ). 1 It incorporates important aspects of clinical phenotype, pathophysiological mechanisms, and treatment considerations. [mdedge.com]
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]
Prevention
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]
Medicine to help prevent bleeding during labour will be offered if your level is low. You'll probably be advised to give birth in a specialist hospital in case there are any problems. [nhs.uk]
Patients with repeated heavy bleeding are usually started on prophylactic treatment with desmopressin or clotting factor to prevent bleeding. [clinicaladvisor.com]
Preventing bleeding episodes Some medicines affect blood clotting. Speak to a doctor before taking some OTC medications. [medicalnewstoday.com]