Search

Alexander Duncan,1 Angela Kellum,2 Skye Peltier,3 David L Cooper,4 Hossam Saad4 1Department of Pathology & Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA; 2Louisiana Center for Bleeding and Clotting Disorders, Tulane University, New Orleans, LA, USA; 3Center for Bleeding and Clotting Disorders, University of Minnesota Medical Center – Fairview, Minneapolis, MN, USA; 4Novo Nordisk Inc., Plainsboro, NJ, USACorrespondence: Alexander DuncanEmory University School of Medicine, Atlanta, GA, USATel +1 404 712 4637Fax +1 404 712 4632Email aduncan@emory.eduPurpose: Glanzmann’s thrombasthenia (GT) is a rare bleeding disorder caused by a mutation in the αIIbβ 3 integrin essential for optimal platelet function and hemostasis. The aim of this study was to identify the burden of GT on patients and caregivers through better understanding of the management and psychosocial impact of this disorder.Patients and Methods: Participants for this online survey were recruited using a rare disease specialty recruiter from Comprehensive Health Education Services. Data were collected from January 31 through March 12, 2019. The questionnaire was designed to collect information regarding demographics, diagnosis, treatment, and psychosocial impact.Results: Of the 45 respondents (24 patients and 21 caregivers), the majority were female (58%), white (64%), and employed full-time (53%) and had no family history of GT (64%). Many patients reported significant bruising at birth (76%), and the mean age at diagnosis was 2.6 years. About half of the patients experienced 1 bleed per day, and 13% had over 500 bleeds of any severity per year. Most bleeds were skin bruising or mouth bleeds, but patients also reported joint/muscle and gastrointestinal bleeds. Most patients reported receiving a platelet transfusion (82%), and some had developed platelet refractoriness (38%) or antibodies (32%). Common treatments were antifibrinolytics (82%) and recombinant activated factor VII (rFVIIa) (42%), likely due to the presence of antibodies. Many (58%) patients experienced issues with excessive bleeding at school; 38% reported missing school as a result. Female patients struggled to find a gynecologist with knowledge of the management of GT. Most patients were satisfied with the support they receive from their current partner (65%) and their friends (76%).Conclusion: Most patients with GT are diagnosed early. Patients experience considerable psychosocial impact. Patient and physician education concerning treatment alternatives and the support of the GT community are critical.Keywords: bleeding disorder, psychosocial impact, recombinant activated factor VII, platelet transfusion, platelet antibodies

Skye Peltier,1 Angela Kellum,2 Janet Brewer,3 Alexander Duncan,4 David L Cooper,5 Hossam Saad5 1Center for Bleeding and Clotting Disorders, University of Minnesota Medical Center - Fairview, Minneapolis, MN, USA; 2Louisiana Center for Bleeding and Clotting Disorders, Tulane University, New Orleans, LA, USA; 3Comprehensive Health Education Services, Hanson, MA, USA; 4Department of Pathology & Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA; 5Novo Nordisk Inc., Plainsboro, NJ, USACorrespondence: Skye PeltierCenter for Bleeding and Clotting Disorders, University of Minnesota Medical Center – Fairview, Minneapolis, MN, USATel +1 612-273-5047Fax +1 612-273-5018Email speltie1@fairview.orgPurpose: Congenital factor VII (FVII) deficiency is a rare bleeding disorder of variable phenotype with predominantly mucocutaneous bleeding. The aim of this study was to identify the burden of FVII deficiency on patients and caregivers through a better understanding of the management and psychosocial impact of this disease.Materials and Methods: A rare disease specialty recruiter from Comprehensive Health Education Services recruited participants for this online survey, which was conducted from January 31 to March 12, 2019. A moderator-assisted questionnaire was used to collect data on demographics, diagnosis, treatment, and psychosocial impact.Results: Of the 45 respondents (25 patients and 20 caregivers), the majority were female (56%). Respondents reported a wide variety of initial bleeding symptoms, including bruising (58%), epistaxis (56%), and menorrhagia (36% of females). Because symptoms varied between individuals and were not always severe, diagnosis was often delayed. Mean time to obtain a diagnosis was 6.5 years and mean age at first diagnosis was 12.9 years. One-quarter (24%) of the respondents reported more than 100 bleeds of any severity over the previous year. When treating bleeds, 44% of patients reported using antifibrinolytics, and 42% reported using recombinant activated factor VII. Almost 31% of respondents reported missing schooldays as children, and 16% reported losing or resigning from a job in adulthood as a direct result of their disease. Notably, 29% of caregivers and 10% of their partners had also experienced issues with employment. Forty percent of respondents reported not participating in contact sports during childhood, and 22% continued to avoid contact sports in adulthood.Conclusion: Overall, FVII deficiency has a substantial psychosocial impact, but most patients are satisfied with their disease management and are optimistic about their future. Patients desire additional educational, social, and financial support.Keywords: bleeding disorder, psychosocial impact, recombinant activated factor VII, survey

Shilpa Jain,1,2 Jennifer Donkin,3 Mary-Jane Frey,4 Skye Peltier,5 Sriya Gunawardena,6 David L Cooper6 1Hemophilia Center of Western New York, Buffalo, NY, USA; 2Department of Pediatrics, Division of Pediatric Hematology-Oncology, John R. Oishei Children’s Hospital, University of Buffalo, Buffalo, NY, USA; 3Hemostasis and Thrombosis Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA; 4Children’s Hospital of Michigan, Detroit, MI, USA; 5Center for Bleeding and Clotting Disorders, University of Minnesota, Minneapolis, MN, USA; 6Clinical Development, Medical and Regulatory Affairs, Novo Nordisk Inc., Plainsboro, NJ, USA Background: One of the most common rare inherited bleeding disorders, congenital factor VII (FVII) deficiency typically has a milder bleeding phenotype than other rare bleeding disorders. Categorizing severity in terms of factor activity associated with hemophilia (severe

Copyright of Journal of Microscopy is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)