ePoster
Presentations Description
Institution: Otolaryngology department, Royal Prince Alfred Hospital - New South Wales, Australia
Aims
Patients with Hereditary Haemorrhagic Telangiectasia (HHT) often face diagnostic delays exceeding 20 years and continue to struggle with effective symptom control after diagnosis [1]. This study explores patient-perceived barriers and facilitators to timely diagnosis and management. To our knowledge, this represents the first systematic enquiry into the causes of both diagnostic delay and difficulty with care in HHT.
Methodology
We conducted qualitative, semi-structured interviews with consenting patients at the Royal Prince Alfred HHT Clinic. The interview guide was based on the “Models of Pathway to Treatment” by Scott et al. (2015) [2]. Interviews continued until thematic saturation was reached. Using an inductive approach, data were coded and organised into themes supported by quotations.
Results
Ten patients with a median age of 50.5 ± 15.3 years were interviewed. Of that 5 were index case, 6 were females and 4 from rural areas. Four key themes emerged: (1) patient factors such as normalisation of symptoms from early onset and shared familial experience, (2) healthcare factors including limited HHT awareness and delayed specialist referral, (3) coordination of care highlighting the value of multidisciplinary clinics, and (4) access barriers affecting rural and financially constrained patients.
Conclusion
Delayed diagnosis and fragmented care in HHT arise from both patient and healthcare factors. Greater clinician awareness and earlier recognition through screening, as well as management via multidisciplinary HHT teams are essential to reduce diagnostic lag and improve outcomes.
References
1.Pierucci, P., et al., A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study. Orphanet J Rare Dis, 2012. 7: p. 33.
2.Scott, S.E., et al., The model of pathways to treatment: conceptualization and integration with existing theory. Br J Health Psychol, 2013. 18(1): p. 45-65.
Speakers
Authors
Authors
Dr Niridu Peiris - , Dr Rebecca Venchiarutti - , Kathleen Le Marquand - , Prof Edmund Lau - , Prof Hubert Low -
