Diagnosis and management of von Willebrand disease in a single institution of Argentina

• Published in: Seminars in thrombosis and hemostasis Vol. 37; no. 5; p. 568
• Main Authors: Woods, Adriana I, Sánchez-Luceros, Analía, Meschengieser, Susana S, Kempfer, Ana C, Blanco, Alicia N, Lazzari, María A
• Format: Journal Article
• Language: English
• Published: United States 01-07-2011
• Subjects: Adolescent; Adult; Argentina; Child; Child, Preschool; Deamino Arginine Vasopressin - therapeutic use; Female; Genetic Association Studies; Hemostatics - therapeutic use; Humans; Male; Middle Aged; Mutation; Pregnancy; Treatment Outcome; von Willebrand Diseases - diagnosis; von Willebrand Diseases - drug therapy; von Willebrand Diseases - genetics; von Willebrand Factor - genetics; Young Adult; Argentina
• ISSN: 1098-9064
• DOI: 10.1055/s-0031-1281044

Von Willebrand disease (VWD) is a bleeding disorder with variable clinical expression. In this article we describe types, clinical features, genetic testing when needed, genotype/phenotype relationships, and the response to desmopressin (DDAVP) testing, according to our experience. Our findings are possible type 1, 69.6%; type 1, 13.5%; severe type 1, 0 .35%; type 3, 0.55%; type 2A, 9.5%; probable 2B, 0.6%; type 2M, 2.5%; and probable type 2N, 3.4%. The most frequent symptoms are ecchymoses-hematomas and epistaxis, and, in females >over 13 years also menorrhagia. In pregnant patients, assessment of laboratory parameters in months 7 and 8 is recommended to plan the need for prophylaxis at term. DDAVP merits to be considered as the first-choice therapy, including pregnant women and children, and no patient showed significant unwanted effects. Because this is a safe, effective, and affordable therapy, we hope to encourage clinicians, mainly pediatricians and obstetricians, to a wider use of DDAVP, especially in developing countries. We also report two patients with prophylactic treatment.