Author: Hasier Eraña
The World Health Organisation (WHO) defines palliative care as an organised approach or response aimed at improving the quality of life of patients and their families facing the challenges associated with life-threatening illnesses. This is achieved by preventing and alleviating suffering through the early identification, assessment and treatment of pain and other physical, psychological and spiritual problems. In other words, it is the set of actions or treatments that meets the needs of people living with a serious, progressive or life-threatening illness who go through stages in which multiple symptoms appear and their condition progressively deteriorates.
Patients with Creutzfeldt-Jakob disease (CJD), a rapidly progressive and fatal neurodegenerative condition, could benefit greatly from early access to palliative care. In practice, however, they often receive medical care that focuses primarily on the management of physical symptoms. Given the rapid progression of the disease and the variability of symptoms, they are rarely referred to palliative care services at an early stage. In turn, their low prevalence means that many palliative care specialists have limited knowledge of these patients’ specific needs; this, combined with the complexity of the symptoms and the need for a multidisciplinary approach, makes it necessary to develop specific protocols tailored to them.
In an effort to improve access to and the provision of palliative care for patients with non-genetic forms of Creutzfeldt-Jakob disease, including sporadic CJD (sCJD), iatrogenic CJD (iCJD) and variant CJD (vCJD), but excluding genetic forms of prion disease, researchers at the MRC Prion Unit in the UK have conducted a systematic review of the published literature on symptoms currently addressed by palliative care in these patients, noting a lack of consensus on how they should be managed. They further concluded that the rarity of the disease, its extraordinarily rapid progression, and the variability in symptoms and duration make it difficult to implement appropriate palliative care. They therefore decided to systematically collect data on the symptoms (physical, psychological, social and spiritual) reported in patients with sCJD, vCJD and iCJD, and their impact on patients’ quality of life, in order to provide tools for palliative care professionals and improve the management of these cases.
Physical symptoms were the most frequently reported category in the literature (75%), with motor symptoms and problems with coordination and balance being the most commonly described. Next came psychological or behavioural, psychiatric and emotional symptoms (23.5%), with a very low prevalence of social symptoms (1%) or spiritual symptoms (practically absent). However, this does not mean that social or spiritual symptoms are less common, but rather that they have received less attention in the scientific literature. This could reflect a bias in research, which has focused more on physical and psychological aspects relevant to diagnosis than on social or spiritual dimensions, which are more closely linked to holistic care. By focusing the analysis on quantifiable rather than descriptive aspects, these dimensions may have been under-represented in the study, despite their relevance.
It is important to remember that not all patients experience all of these symptoms, nor do they experience them with the same intensity or in the same order. Precisely because of this variability, early access to experienced teams can help anticipate needs and tailor care more effectively.
Focusing on physical symptoms, following motor disorders (myoclonus or muscle spasms and sudden involuntary movements, tremors, rigidity, etc.) and disorders of coordination and balance (ataxia or loss of muscle control and coordination, dizziness, gait disturbances, etc.) were the most common, followed by speech or language disorders (dysarthria or slurred, halting or difficult-to-understand speech, aphasia or difficulty producing and understanding words, etc.) and visual and sensory disorders (diplopia or double vision, blurred vision, etc.). Finally, in the physical category, the literature also includes cognitive problems (dementia, memory loss, confusion/disorientation, etc.) and sleep disturbances (fatigue, insomnia, drowsiness), and, although less commonly, other neurological symptoms such as headaches and seizures, problems related to nutrition and swallowing (dysphagia or inability to swallow, weight loss, etc.) and autonomic disorders (sphincter dysfunction, excessive sweating, constipation, etc.).
With regard to psychological, psychiatric and emotional symptoms—which in many cases preceded cognitive problems—the most frequently reported in the literature were hallucinations, depression and anxiety, which were often observed alongside delusions, particularly those of a paranoid or persecutory nature. Among the emotional symptoms, apathy, withdrawal and lack of motivation stood out, although these were less common.
In the case of social symptoms, although these were rarely reported in the scientific literature and are therefore under-represented in the quantitative analysis carried out by the authors, they did find more descriptive accounts highlighting the profound isolation and loss of personal interactions experienced by patients with CJD. Another notable aspect they identified in this category was functional impairment, that is, the inability to carry out everyday activities, which is reported in virtually all the cases described.
Although patients with sCJD are likely to experience symptoms of a more spiritual or existential nature, this aspect is not addressed in the scientific literature, highlighting the need to explore this aspect of the disease in order to develop a more comprehensive approach to its management.
Although this study systematically compiles the most commonly reported symptoms from a predominantly diagnostic perspective, neither this study nor previous ones address in depth how these symptoms progress and affect patients’ quality of life—both of which are essential for the design of palliative care. This study represents a first step, highlighting the need for studies dedicated to palliative care in sCJD, moving beyond the simple classification of symptoms to studies focused on analysing quality of life from the perspective of patients and carers. They therefore conclude that future studies on this topic should incorporate systematic assessments of quality of life as reported by patients and their immediate support network, offering a more holistic view, which is necessary for the design of appropriate palliative care protocols.
At the Foundation, we believe that this kind of work is important because it helps to highlight needs that are often overlooked. With diseases as rapidly progressing and complex as prion diseases, improving patient support, anticipating symptoms and providing support for families must be an essential part of care.
You can access the original article in English here.
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