Introduction: Glanzmann thrombasthenia (GT) is a platelet function disorder. Symptoms include bruising and bleeding, which may be severe and life-threatening. The day-to-day experiences of those affected remain poorly documented.
Aims: The Glanzmann's 360 study aimed to better understand the daily realities of living with GT, exploring psychological, social and medical challenges to identify unmet need.
Methods: People with GT over 18 and caregivers of children with GT participated. Mixed methods research was used, including a survey and in-depth interviews. The interviews, reported here, were audio-recorded, transcribed and thematically analysed.
Results: Nineteen interviews were conducted; 14 with people with GT and five caregivers. Mean age of those with GT was 32.9 years (range 2-78 years). Eight themes emerged: Diagnosis, Bleeding and Treatment, Menstruation, Fatigue, Identity, Abuse, Pregnancy, and The Future. Three participants described misdiagnosis. Caregivers reported early recognition and prompt diagnosis of their children. Bruising, the most commonly reported symptom, led to assumption of abuse. Six (32%) participants reported joint bleeds. External bleeding was normalised. Access to home treatment and local care were limited. Fatigue caused by anaemia was described. All women reported heavy menstrual bleeding. Choices around pregnancy were limited by 'medical pessimism'. Nevertheless, participants remained hopeful for the development of improved treatment options.
Conclusion: People with GT face significant and often overlooked challenges. There is need for improved medical and psychological treatment and support, increased awareness of these needs amongst healthcare professionals, and research into developing comprehensive care models that address medical and psychosocial needs of people with GT.
Keywords: Glanzmann thrombasthenia; lived experience; normalised bleeding; unmet need.
© 2024 The Author(s). Haemophilia published by John Wiley & Sons Ltd.