Disease Burden in Patients with Glanzmann Thrombasthenia: Perspectives from the Glanzmann Thrombasthenia Patient/Caregiver Questionnaire

Abstract

Introduction: Glanzmann thrombasthenia (GT) is a rare bleeding disorder (~1:1,000,000) caused by impaired function of platelet glycoprotein IIb/IIIa responsible for aggregation. This novel survey was designed to identify the burden of GT through better understanding of the management of the disorder and its psychosocial impact on patients and caregivers. Methods: Participants were recruited via a rare disease specialty recruiter from Comprehensive Health Education Services. Data were collected from January 31 through March 12, 2019, via a moderator-assisted online survey. On average, the survey was completed within 45 minutes. Information regarding demographics, diagnosis, treatment history, and quality of life was collected. Results: In total, 45 respondents (24 patients and 21 caregivers; 58% female) completed the survey. Many patients were born with significant bruising (76%) or bled extensively during circumcision (47%). As a result of their early symptoms, more than 50% of those surveyed were diagnosed prior to their first birthday. For others, the average time between experiencing initial symptoms and visiting a specialist was just over 1 year and to diagnosis was just over 2 years (average age, 2.6 years, range <1-38 years). Misdiagnosis with von Willebrand disease was common. Approximately 50% of patients experienced 1 bleed every day, and 13% reported over 500 bleeds per year; Most bleeds were skin bruises and mouth bleeds, but patients also reported joint/muscle and gastrointestinal bleeds. Only 24% of respondents reported being treated at a hemophilia treatment center; 71% reported visiting their hematologist regularly. The most common treatment for bleeds was antifibrinolytics (82%), followed by recombinant activated factor VII (rFVIIa; 42%). In addition, 73% reported receiving platelets and blood transfusions in the past year. Approximately 25% reported receiving more than 20 transfusions in their lifetime. Overall, 38% of patients reported having experienced refractoriness to platelets and 32% antibodies to platelets; notably, only these patients reported receiving treatment with rFVIIa. Many feared uncontrolled bleeding due to refractoriness or antibodies to platelets and stated that their health care providers (HCPs) were too quick to treat bleeds with platelets. Many female patients struggled to find a gynecologist with some knowledge of the management of menstruation, pregnancy, and childbirth in patients with GT; 11% of respondents reported menstrual bleeding that required hospitalization and/or emergency treatment. The majority (74%) of female patients reported taking hormonal contraceptives to prevent regular menstruation; some patients not taking hormones required monthly platelet transfusions. Fifty-eight percent of patients reported issues with excessive bleeding at school as children; 38% reported missing school days and 33% were bullied during childhood. In addition, 38% of adult patients and 24% of caregivers had missed work as a result of GT, and 21% of adult patients reported that their employer did not take their condition seriously. Many respondents (65%) were satisfied with the level of support they receive from their significant other, and 76% were satisfied with the level of support they receive from their friends. Conclusions: Many patients with GT are identified early in life owing to a severe phenotype, but diagnosis remains somewhat difficult. Patients with GT experience frequent bleeding episodes, commonly as bruises and nosebleeds, with 31% experiencing more than 100 bleeds per year. Additional support from outside the GT patient community is needed. Patients desire additional education for themselves and their HCPs, especially around menstruation, childbearing, and treatment options. Disclosures Duncan: Novo Nordisk Inc: Consultancy. Kellum:Novo Nordisk Inc: Membership on an entity's Board of Directors or advisory committees; Takeda: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau. Jain:Bioverativ/Sanofi: Consultancy, Membership on an entity's Board of Directors or advisory committees; Novo Nordisk Inc: Consultancy, Membership on an entity's Board of Directors or advisory committees; Bayer: Consultancy, Membership on an entity's Board of Directors or advisory committees; CSL Behring: Consultancy, Membership on an entity's Board of Directors or advisory committees; Octapharma: Consultancy, Membership on an entity's Board of Directors or advisory committees; Takeda/Shire: Consultancy, Membership on an entity's Board of Directors or advisory committees; BPL: Consultancy, Membership on an entity's Board of Directors or advisory committees. Peltier:Novo Nordisk Inc: Membership on an entity's Board of Directors or advisory committees. Cooper:Novo Nordisk Inc.: Employment. Saad:Novo Nordisk Inc: Employment.

Glanzmann Thrombasthenia: A Case Report of a Rare Inherited Coagulation Disorder Presenting with Traumatic Head Injury

“…Duncan et al 17 conducted research on GT to identify the burden of disease for patients and caregivers through a better understanding of the management and psychosocial impact of this disorder, concluding that most patients with GT are diagnosed early, with >50% of participants diagnosed with GT within 1 year.…”

European principles of care for women and girls with inherited bleeding disorders

“…BDs affect whole families, not just individuals, due to inheritance, impact of a patients’ bleeding symptoms on family members, social impact, loss of productivity, stress, anxiety and other concerns related to bleeding episodes 38–41 . HMB represents a monthly bleeding challenge and, even in the general population, impacts normal daily life in up to one third of women.…”

Glanzmann Thrombasthenia 10 Years Later: Progress Made and Future Directions

“…Similar initiatives are being made across the world including in the United States for IPDs including GT and in the gulf countries where GT is particularly frequent. 111,112 Indeed, an excellent guideline for the management of GT has been published from Saudi Arabia by Tarawah et al 112 Duncan et al 113 set up a Novo Nordisk-sponsored online questionnaire for which 24 patients and 21 caregivers in the United States responded. A feature of the results was that about half of the patients experienced daily mucocutaneous bleeding (skin bruising, gum bleeding, and epistaxis).…”