Recommendations for the holistic care of patients with hereditary ATTR amyloidosis: an international Delphi consensus of patient advocates and multidisciplinary healthcare professionals
Authors: Bueser T , Ablett J , Coelho T , Conceicao I , Dongiglio F , Knebel F , Morier A , Obici L 
Published: July 2023

Funding Acknowledgements

Type of funding sources: Private grant(s) and/or Sponsorship. Main funding source(s): Alnylam Pharmaceuticals

Background

Hereditary transthyretin-mediated amyloidosis (ATTRv) is a rare, progressive, and potentially life-limiting multisystem disease, with cardiac manifestations, managed in a specialist settings by a multidisciplinary team (MDT) and supported by allied healthcare professionals (HCPs).

Purpose

This online international Delphi survey aimed to evolve clinical-patient-led practical guidance for the delivery of patient-centred holistic care based on the needs and priorities of affected patients and their families.

Methods

A 14-member joint patient−HCP Primary Panel was convened including patient advocacy groups (PAGs) and key clinical specialties (neurology, cardiology, physiotherapy, psychology, nutrition and nursing). All members of the Primary Panel had a role in identifying the challenges and opportunities which could be addressed by the recommendations (Figure) and in the writing and reviewing of the recommendations, using published evidence/guidelines to support each recommendation. Guidance evolved on the care provision needed to support seven core goals: early diagnosis and treatment; disease monitoring and organisation of care; maintenance of physical rehabilitation and mental health; family-centred care and caregiver support; patient−doctor dialogue; access to social support; and social networking.

Results

Between June−October 2022, 100 HCPs and 22 PAG representatives from 27 countries took part in anonymised online Delphi voting to establish the level of agreement (≥75% group agreement) and feasibility in practice for 50 recommendations. The clinical–patient community endorsed all but one of the primary panel’s recommendations. However, only 34% (17 of 50) of the recommendations were identified by most HCPs as a core part of routine care at their institutions, with the remainder of the recommendations identified as either part of usual care (by &lt;50% HCPs respondents) or as largely achievable (by a further 30%-45% of HCPs) with current resources. The highest level of agreement amongst PAG representatives was for the regular referral and assessment of patients by a nutritionist, patient education and information for families; the role of specialist centres in providing information on national patient associations; the option for interim review (telemedicine) between scheduled tertiary centre visits for patients with worsening of symptoms; the need for treatment decisions informed by discussion with the MDT and patients; and training of HCPs to increase disease awareness and early diagnosis/intervention.

Conclusions

This research highlights the challenges associated with the holistic care of patients, particularly in rare diseases, recognising the roles of PAGs and allied HCPs, including those in the cardiovascular specialty, in supporting patients and their families as part of a comprehensive care plan.

Figure: Opportunities and challenges for the delivery of care for patients with ATTRv amyloidosis and their caregivers