Topic 17.2. Palliative care
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
Topic Contents
17.2 Palliative care
17.2.1 Background
17.2.2 Benefits of palliative care
17.2.3 Management of palliative care
Disclaimer / Intended Use / Funding
Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.
The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.
Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.
These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.
Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.
17.2 Palliative care
Lauren Treat, Mary G. Kearney and Neal J. Weisbrod
17.2.1 Background
Palliative care seeks to promote high quality care for individuals with life-altering and/or life-limiting medical illness by addressing physical, emotional, psychological, and spiritual sources of suffering (5). In contrast to hospice support at end of life, involvement of palliative care specialists can begin as early as the time of diagnosis or in reaction to a complication of illness that impairs one’s ability to live well.
Individuals with FRDA face a challenging prognosis of progressive disease that often results in significant disability and a shortened lifespan (6); this knowledge alone can have psychological, emotional, and spiritual impacts even before the onset of physical symptoms. Individuals with FRDA are eligible for and can benefit from palliative care from early in their course through to end of life by proactively promoting quality of life in any phase of the illness.
17.2.2 Benefits of palliative care
Recognizing that individuals with FRDA often are under the care of multiple medical subspecialists, the addition of a palliative care team can help to maintain a holistic view of the individual’s quality of life while also promoting goals that emphasize living well in the context of serious medical illness.
Functions of a palliative care team can include helping with care coordination, providing additional pain and symptom management, facilitating shared decision making for medical treatments, and advocating for whole-person care in the midst of medical management. Palliative care teams are available in both hospital and clinic settings, depending on the institution.
17.2.3 Management of palliative care
Palliative care is generally added on top of usual care as an extra layer of support for individuals facing serious medical illness. Palliative care specialists generally set out to understand the goals and values of the individual, apart from their medical illness, and then help the patient and family create a treatment plan that aligns with those goals and values. Physical symptoms such as pain, fatigue, and disability can challenge the way that individuals with FRDA are able to live their life and palliative care teams are well-suited to provide interdisciplinary care that aims to relieve the suffering of patients and families.
Palliative care teams can provide consultation in the hospital during times of acute need, as well as in the clinic setting to address chronic concerns, although availability varies widely in different parts of the world.
Specialty palliative care for adults with heart failure with Friedreich ataxia
QUESTION: Should specialty palliative care versus usual care be used for adults with heart failure with Friedreich ataxia?
LEVEL OF EVIDENCE: ⨁⨁◯◯
RECOMMENDATION: We suggest that a palliative care consultation should be considered for individuals with Friedreich ataxia complicated by heart failure, particularly when there is a large burden of symptoms, poor perceived quality of life, or an upcoming medical decision to be made about which there is uncertainty of benefit or a significant impact on quality of life.
JUSTIFICATION: While there is no direct evidence in the Friedreich ataxia population, we can extrapolate to some degree from the heart failure population and expert consensus on the subject. The effect size doesn’t appear to be large in many of the studies on palliative care, but well-designed studies often show improvement in symptom measures or quality of life measures (7-11). Many of these studies involve a home care or telehealth component, and where available these more patient-centered approaches to palliative care contact are likely to be beneficial compared to interventions limited to the hospital or office (9, 11-14). In situations such as during the COVID-19 pandemic, a telehealth component would be appropriate and appreciated.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia with heart failure.
Evidence to Recommendation Table PDFLay summary of clinical recommendations for palliative care in Friedreich ataxia
Palliative care seeks to promote high-quality care for individuals with life-altering and/or life-limiting medical illness by addressing physical, emotional, psychological, and spiritual sources of suffering. Involvement of palliative care specialists can begin as early as the time of diagnosis or in reaction to a complication of illness that affects one’s ability to live well.
Palliative care is generally added to usual care as an extra layer of support for individuals facing serious medical illness. Palliative care specialists generally set out to understand the goals and values of the individual, apart from their medical illness. They also help the patient and family create a treatment plan that aligns with those goals and values, which can include a formal advance care plan.
Why this recommendation?
No studies have looked at palliative care specifically in Friedreich ataxia, but there are many studies of how palliative care helps people with heart disease as well as for people with progressive neurological conditions. For those with heart failure, palliative care benefits include improvements in quality of life, better symptom management, and reduced anxiety and depression. For carers of people with heart failure, inclusion of palliative care can help prevent ‘burnout’ and leads to better satisfaction with care.
We encourage all individuals with Friedreich ataxia to consider engaging with palliative care specialists to promote whole-person care at all stages of illness. Early introduction of palliative care allows an individual and their family to build long-term support that can be engaged readily during periods of medical strain.
Alternatively, many people are referred for palliative care when their condition places more limitations on the way they wish to live, such that discussions of quality of life become focused on interventions that one may or may not wish to undergo. In all phases of illness, the goal of palliative care remains the same: to help individuals with serious illness live as well as possible for as long as possible.
What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?
Engaging with palliative care specialists at all stages of illness can promote whole-person care for you and your family or carers, and help to build long-term support that can be engaged readily during periods of medical strain.
Alternatively, you may be referred for palliative care when your condition places more limitations on the way you wish to live. At this stage, discussions of quality of life become focused on interventions that you may or may not wish to undergo.
Who is this recommendation specifically for?
This recommendation applies to all individuals with Friedreich ataxia, but is particularly relevant for those who have already experienced limitations on their quality of life related to their disease. Examples of such limitations include loss of ambulation, swallowing problems or need for a feeding tube, and activity restrictions related to heart disease. In addition, palliative care is particularly important for those individuals who would like to discuss what a comfort-focused approach to medical care could look like in the context of their specific circumstances.
Mary G. Kearney, MD
Neurology Research Fellow, Tallaght University Hospital, Dunlavin, Wicklow, Ireland
Email: marykearney@gmail.com
Lauren Treat, MD
Assistant Professor of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA
Email: lauren.treat@childrenscolorado.org
Neal J. Weisbrod, MD
Assistant Professor of Neurology, University of Florida, University of Florida, Florida, USA
2. Walter HAW, Seeber AA, Willems DL, de Visser M. The role of palliative care in chronic progressive neurological diseases – a survey amongst neurologists in the Netherlands. Front Neurol. 2018;9:1157.
3. Chen H, Habermann B. Ready or not: planning for health declines in couples with advanced multiple sclerosis. J Neurosci Nurs. 2013;45(1):38-43.
4. Solari A, Oliver D, Force EANGT. Palliative care in multiple sclerosis: European guideline. Mult Scler. 2020;26(9):1009-11.
5. National Institute on Aging: National Institues of Health. Palliative Care: NIH; 2020 [Available from: https://www.nia.nih.gov/health/topics/palliative-care.
6. Cook A, Giunti P. Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017;124(1):19-30.
7. Rogers JG, Patel CB, Mentz RJ, Granger BB, Steinhauser KE, Fiuzat M, et al. Palliative Care in Heart Failure: The PAL-HF Randomized, Controlled Clinical Trial. J Am Coll Cardiol. 2017;70(3):331-41.
8. Sidebottom AC, Jorgenson A, Richards H, Kirven J, Sillah A. Inpatient palliative care for patients with acute heart failure: outcomes from a randomized trial. J Palliat Med. 2015;18(2):134-42.
9. Brannstrom M, Boman K. Effects of person-centred and integrated chronic heart failure and palliative home care. PREFER: a randomized controlled study. Eur J Heart Fail. 2014;16(10):1142-51.
10. Wong FK, Ng AY, Lee PH, Lam PT, Ng JS, Ng NH, et al. Effects of a transitional palliative care model on patients with end-stage heart failure: a randomised controlled trial. Heart. 2016;102(14):1100-8.
11. Bakitas MA, Dionne-Odom JN, Ejem DB, Wells R, Azuero A, Stockdill ML, et al. Effect of an early palliative care telehealth intervention vs usual care on patients with heart failure: the ENABLE CHF-PC randomized clinical trial. JAMA Intern Med. 2020;180(9):1203-13.
12. Sahlen KG, Boman K, Brannstrom M. A cost-effectiveness study of person-centered integrated heart failure and palliative home care: Based on a randomized controlled trial. Palliat Med. 2016;30(3):296-302.
13. Dionne-Odom JN, Ejem DB, Wells R, Azuero A, Stockdill ML, Keebler K, et al. Effects of a telehealth early palliative care intervention for family caregivers of persons with advanced heart failure: The ENABLE CHF-PC randomized clinical trial. JAMA Netw Open. 2020;3(4):e202583.
14. Ng AYM, Wong FKY. Effects of a home-based palliative heart failure program on quality of life, symptom burden, satisfaction and caregiver burden: a randomized controlled trial. J Pain Symptom Manage. 2018;55(1):1-11.
15. Pousset F, Legrand L, Monin ML, Ewenczyk C, Charles P, Komajda M, et al. A 22-year follow-up study of long-term cardiac outcome and predictors of survival in Friedreich ataxia. JAMA Neurol. 2015;72(11):1334-41.
16. De Michele G, Perrone F, Filla A, Mirante E, Giordano M, De Placido S, et al. Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich’s disease: a retrospective study on 119 patients. Neurology. 1996;47(5):1260-4.
17. Lah S, Wilson EL, Beesley S, Sagy I, Orme J, Novack V, et al. Association of hospice utilization and publicly reported outcomes following hospitalization for pneumonia or heart failure: a retrospective cohort study. BMC Health Serv Res. 2018;18(1):12.
18. Yim CK, Barron Y, Moore S, Murtaugh C, Lala A, Aldridge M, et al. Hospice enrollment in patients with advanced heart failure decreases acute medical service utilization. Circ Heart Fail. 2017;10(3):e003335.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.