Von Willebrand Disease
Conditions
Brief summary
Establish a Latin-American network of centers and professionals with the aim of: * To register VWD patients in retrospective/prospective study, using a database, available online, common to all * To register the bleeding history, the treatment and the events of VWD patients in the region * To investigate the influence of VWD on quality of life
Detailed description
von Willebrand disease (VWD) is the most common autosomal bleeding disorder, mostly inherited as dominant trait. VWD is due to deficiency/abnormality of von Willebrand factor (VWF). The prevalence of VWD is unknown, but estimated as 0.1% to 1% of the general population. Although the autosomal inheritance pattern would suggest an equal distribution of male and female patients, the disease is diagnosed in more females because of female-specific hemostatic challenges: menses, ovulation, pregnancy and childbirth. Diagnosis of VWD is made by assessing personal and family history of bleeding, physical examination and completed with specific laboratory tests. There is limited information on the epidemiology of VWD in developing countries. Some countries in Latin America have registries of severe disease that, although it is the rarest form, carries the highest costs for regional health systems. So that the prevalence of clinical symptoms and laboratory features of the disease as well as the management of the disease in Latin America is unknown. The present project aims to establish a network of centers and professionals with the objective to register and investigate all patients with VWD in Latin America, using a database available online common to all, to gain understanding about phenotype, genotype and management of VWD in the region.
Interventions
OTHERObservation
No interventions planned: treatment of patients at the discretion of the treating/responsible physician
Sponsors
Academia Nacional de Medicina
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Inclusion criteria
* Historically lowest VWF:Ag and/or VWF:RCo and/or VWF:CB \< 0.50 IU/ml and/or FVIII:C \< 0.50 IU/ml * All types of VWD * All ages
Exclusion criteria
* Patient without consent to participate
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Register of VWD patients in Latin America | assessed up to 33 months | Clinical presentation in hereditary/acquired VWD. Phenotype and genetic diagnosis. |
| Registration of the bleeding history | From date of selection until the date registration, assessed up to 33 months. | Bleeding history is an essential component in the diagnosis of von Willebrand disease (VWD). ISTH Bleeding Assessment Tool (ISTH-BAT) is used to assist the diagnosis. |
| Response to Treatment: Follow up of FVIII, VWF:Ag and VWF:RCo | Until the end of the registry, an average of 33 months. | The aim of therapy is to correct the dual hemostatic defect, due to defective platelet adhesion-aggregation and abnormal coagulation due to Factor VIII (FVIII) deficiency. The choice of treatment depends on a number of factors, including the severity of the bleed, the procedure planned, the subtype and severity of the disease and the age and morbidity of the patient. The evaluation of the response to the treatment is going to be through the measure of FVIII, vWF Antigen (VWF:Ag) and vWF ristocetin cofactor (vWF:RCo). |
| Adverse Events: Number of patients with bleeding events | until the end of the registry, an average of 33 months. | Bleeding disorders and their treatment impact on patients, especially in women, can affect the everyday life of patients and their families. Measure of number of bleeding events, laboratory results such as Sodium. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Pregnancy outcome: Follow up of FVIII, VWF:Ag and VWF:RCo | Through study completion, an average of 2 years | For many women with VWD, pregnancy is a time of few bleeding problems. Women with Type 3 von Willebrand disease seem to have more frequent miscarriages, especially during the first trimester. The evaluation of the response to the treatment is going to be through the measure of FVIII, vWF Antigen (VWF:Ag) and vWF ristocetin cofactor (vWF:RCo). |
Contacts
Primary ContactAnalia Sanchez Luceros, PhD, MD
Backup ContactAnalia Kinen
Outcome results
None listed