Response to DDAVP in Two Family-Related Patients with von Willebrand Disease Type 2M Carrying p.Glu1549Lys Mutation

Journal of Hematology and Transfusion

Science Medcal Central.

Año: 2016 vol. 4 p. 1055 - 1055

n this report, we describe the response to DDAVP in two family-related patients with familiar von Willebrand disease (VWD 2M), who were heterozygous forp.Glu1549Lys mutation. A 21year-old male who had prolonged bleeding after tooth extractions and a lifelong history of easy bruising and epistaxis was referred to our laboratory.Hematological examination revealed normal platelet count and prothrombin time but prolonged aPTT, low von Willebrand ristocetin cofactor (0.23 IU/ml) and normal von Willebrand antigen and collagen binding (0.63 and 0.52 IU/ml, respectively). His father and both of his twin older sisters also had history of hemorrhages. Genetic studies revealed p.Glu1549Lys mutation in the heterozygous state of the propositus, his father and sisters. DDAVP test showed a poor response 60 min after infusion in the propositus and one of his sisters, resulting both in a similar profile of response. Patients with VWD types 2M have been previously described to present poor response to