Abstract Number: PB1590
Meeting: ISTH 2020 Congress
Background: The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The diagnosis of VWD is based on the nature of the VWF deficiency: partial or complete VWF quantitative deficiencies (types 1 and 3, respectively) and qualitative deficiency (type 2).
Aims: Our aim is to evaluate how molecular studies can improve the establishment of the correct diagnosis in patients who attended our Center with suspicion of VWD.
Methods: The study included 118 patients (105 families), adults and children with a median age of 38 years (1-80), 70F:48M, with personal/family history of significant haemorrhage identified through the BAT and ISTH guidelines. The functional VWF studies were carried out in all patients followed by next generation sequencing (NGS) workflow using a panel of Thrombosis and Haemostasis (43 genes). The genotype/phenotype was compared and a final diagnosis was established.
Results: VWD was confirmed in 83 patients (70%) with the distribution as follows: type 1 VWD (n = 33), type 3 VWD (n = 12), type 2A (n = 6), type 2B (n = 4), type 2M (n = 23) and type 2N (n = 5). Four patients had variants in different genes (F8,NBEAL2,GGCX,ITGA2B) with evidence of oligogenic inheritance. The remaining 30 patients were considered with diminished VWF levels and increased bleeding risk.
A total of 29 different VWF pathogenic variants were found. Twenty five probands had two or more VWF variants. In addition, variants with pleiotropic effects were detected and explained the clinical variability, which is found even in the same family.
Conclusions: These findings illustrate that improving VWD diagnosis strategy with NGS molecular studies has permitted in our Centre the most correct treatment for each patient and genetic counseling.
To cite this abstract in AMA style:Catarino Oliveira C, Rodrigues F, Pereira A, Campaniço S, Teodoro M, Silva Pinto C, Martinho P, Fidalgo T. Diagnosis and Management of von Willebrand Disease in a Portuguese Reference Center of Congenital Coagulopathies [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/diagnosis-and-management-of-von-willebrand-disease-in-a-portuguese-reference-center-of-congenital-coagulopathies/. Accessed January 23, 2022.
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