Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation

Thromb Haemost. 2011 May;105(5):921-4. doi: 10.1160/TH10-08-0517. Epub 2011 Feb 28.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autoantibodies / metabolism
  • Chromosome Disorders
  • DNA Mutational Analysis
  • Family
  • Genes, Dominant
  • Hemorrhage
  • Humans
  • Janus Kinase 2 / genetics
  • Male
  • Mutation / genetics
  • Myeloproliferative Disorders / complications
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / drug therapy
  • Myeloproliferative Disorders / genetics
  • Myeloproliferative Disorders / physiopathology
  • Pedigree
  • Platelet Aggregation / genetics
  • Platelet Aggregation Inhibitors / administration & dosage
  • Remission Induction
  • Thrombocythemia, Essential / complications
  • Thrombocythemia, Essential / diagnosis*
  • Thrombocythemia, Essential / drug therapy
  • Thrombocythemia, Essential / genetics
  • Thrombocythemia, Essential / physiopathology
  • von Willebrand Disease, Type 1 / complications
  • von Willebrand Disease, Type 1 / diagnosis*
  • von Willebrand Disease, Type 1 / drug therapy
  • von Willebrand Disease, Type 1 / genetics
  • von Willebrand Disease, Type 1 / physiopathology
  • von Willebrand Disease, Type 2 / complications
  • von Willebrand Disease, Type 2 / diagnosis*
  • von Willebrand Disease, Type 2 / drug therapy
  • von Willebrand Disease, Type 2 / genetics
  • von Willebrand Disease, Type 2 / physiopathology
  • von Willebrand Factor / genetics
  • von Willebrand Factor / immunology
  • von Willebrand Factor / metabolism*

Substances

  • Autoantibodies
  • Platelet Aggregation Inhibitors
  • von Willebrand Factor
  • JAK2 protein, human
  • Janus Kinase 2