title: Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N.
abstract: Hemophilia A and von Willebrand disease (VWD) are distinct bleeding disorders with a spectrum of clinical phenotypes. They are characterized by mutations in either factor VIII (F8) or von Willebrand factor (VWF) genes, respectively. The pattern of inheritance and appropriate laboratory evaluation differentiates these diseases, and treatment strategies for both are different. Here, we report a male patient with hemophilia A and VWD Type 2 Normandy (N) mutations who presented with life-threatening bleeding. We document his medical history, clinical course, management, and diagnostic work up.
authors.affiliation: Division of Hematology Oncology, Department of Medicine, New York-Presbyterian Hospital/Weill Cornell Medical Center, 525 East 68th Street 3rd Floor Starr Pavilion, New York, NY, 10065, USA, joa9069@nyp.org.
authors.forename: John N
authors.initials: JN
authors.lastname: Allan
authors.forename: Kenneth D
authors.initials: KD
authors.lastname: Friedman
authors.forename: Maria T
authors.initials: MT
authors.lastname: DeSancho
mesh_terms: D001707:Biopsy, Needle / Q000009:adverse effects; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D005169:Factor VIII / Q000627:therapeutic use; D006467:Hemophilia A / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006470:Hemorrhage / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D019106:Postoperative Hemorrhage; D012771:Shock, Hemorrhagic / Q000209:etiology / Q000628:therapy; D016896:Treatment Outcome; D056728:von Willebrand Disease, Type 2 / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
chemical_list: D005169:Factor VIII; D003894:Deamino Arginine Vasopressin