title: Use of a thrombopoietin receptor agonist in von Willebrand disease type 2B (p.V1316M) with severe thrombocytopenia and intracranial hemorrhage.
abstract: We present here a 63-year old woman with a long history of immune thrombocytopenia. She was hospitalized for a traumatic intracranial hemorrhage with thrombocytopenia. Following inefficient treatment of four platelet transfusions, immunoglobulins, and corticosteroids, we initiated treatment with a thrombopoietin (TPO) receptor agonist (eltrombopag 25 mg/d) with a good efficacy. Her mother and sister also had chronic thrombocytopenia. Clinical history, hemostasis results, and gene analysis revealed von Willebrand disease (VWD) type 2B with the mutation (c.3946G>A; p.V1316M), which combines a von Willebrand factor defect with severe thrombocytopenia, as well as a thrombocytopathy. The efficacy of TPO receptor agonists appears to counterbalance, at least to some extent, the thrombocytopathy associated with this mutation. As such, the use of TPO receptor agonists could represent an alternative therapeutic approach in cases of VWD type 2B with severe thrombocytopenia.
authors.affiliation: a Service de Médecine Interne, CHU de Nantes , France.
authors.forename: O
authors.initials: O
authors.lastname: Espitia
authors.affiliation: b Service d'Hématologie Biologique CHU de Nantes , Nantes , France.|c Centre de Traitement de l'Hémophilie CHU de Nantes , France.
authors.forename: C
authors.initials: C
authors.lastname: Ternisien
authors.affiliation: a Service de Médecine Interne, CHU de Nantes , France.
authors.forename: C
authors.initials: C
authors.lastname: Agard
authors.affiliation: d CHU de Nantes, Service de Génétique Médicale , Nantes , France.
authors.forename: P
authors.initials: P
authors.lastname: Boisseau
authors.affiliation: e Institut National de la Santé et de la Recherche Médicale , UMR_S 1176, University of Paris-Sud, Université Paris-Saclay , Le Kremlin-Bicêtre , France.
authors.forename: C V
authors.initials: CV
authors.lastname: Denis
authors.affiliation: b Service d'Hématologie Biologique CHU de Nantes , Nantes , France.|c Centre de Traitement de l'Hémophilie CHU de Nantes , France.
authors.forename: M
authors.initials: M
authors.lastname: Fouassier
mesh_terms: D019943:Amino Acid Substitution; D001565:Benzoates / Q000008:administration & dosage*; D005260:Female; D006801:Humans; D006834:Hydrazines / Q000008:administration & dosage*; D020300:Intracranial Hemorrhages / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense; D011720:Pyrazoles / Q000008:administration & dosage*; D053628:Receptors, Thrombopoietin / Q000819:agonists*; D013921:Thrombocytopenia / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D056728:von Willebrand Disease, Type 2 / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics
chemical_list: D001565:Benzoates; D006834:Hydrazines; D011720:Pyrazoles; D053628:Receptors, Thrombopoietin; D014841:von Willebrand Factor; C082218:MPL protein, human; C520809:eltrombopag
keywords: Blood platelet disorders; hemorrhage; thrombocytopenia; thrombopoietin receptor agonist; type 2B von Willebrand disease