Von Willebrand disease type 2B with a novel mutation in the VWF gene

Ann Saudi Med. 2021 Jan-Feb;41(1):59-61. doi: 10.5144/0256-4947.2021.59. Epub 2021 Feb 4.

Abstract

We report a 38-year-old woman who presented with a subdural hematoma after minor facial trauma in a stressful situation. The laboratory data showed a subnormal platelet count (166×109/L), VWF:RCo activity was 45% and VWF:Ag was 53% with a VWF:RCo/VWF Ag ratio of 0.79. Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b. SIMILAR CASES PUBLISHED: None.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Mutation
  • Ristocetin
  • von Willebrand Diseases* / diagnosis
  • von Willebrand Diseases* / genetics
  • von Willebrand Factor* / genetics

Substances

  • von Willebrand Factor
  • Ristocetin

Grants and funding

None.