title: Diagnosis and management of von Willebrand disease in a single institution of Argentina.
abstract: 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.
authors.affiliation: Instituto de Investigaciones Hematológicas Mariano R Castex, Academia Nacional de Medicina de Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina. aiwoods@hematologia.anm.edu.ar
authors.forename: Adriana I
authors.initials: AI
authors.lastname: Woods
authors.forename: Analía
authors.initials: A
authors.lastname: Sánchez-Luceros
authors.forename: Susana S
authors.initials: SS
authors.lastname: Meschengieser
authors.forename: Ana C
authors.initials: AC
authors.lastname: Kempfer
authors.forename: Alicia N
authors.initials: AN
authors.lastname: Blanco
authors.forename: María A
authors.initials: MA
authors.lastname: Lazzari
mesh_terms: D000293:Adolescent; D000328:Adult; D001118:Argentina; D002648:Child; D002675:Child, Preschool; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use*; D005260:Female; D056726:Genetic Association Studies; D006490:Hemostatics / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011247:Pregnancy; D016896:Treatment Outcome; D055815:Young Adult; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics
chemical_list: D006490:Hemostatics; D014841:von Willebrand Factor; D003894:Deamino Arginine Vasopressin