Patients with hereditary transthyretin amyloidosis (hATTR) have to contend with a range of physical and psychological symptoms that can be debilitating.
Because amyloid deposition occurs throughout the body, patients are subject to multisystemic symptoms; among these are progressive polyneuropathy, which first manifests as mild autonomic dysfunction and lower limb sensory impairment and progresses to more severe autonomic dysfunction and sensory-motor impairment of all limbs. Some patients become completely immobile in later stages of the disease.
The sting of this disease is in its progressive, unpredictable nature; patients often struggle with carrying out activities of daily living due to manifestations of this condition. In addition to neuropathy, gastrointestinal abnormalities, cardiomyopathy, and ocular pathology can occur; any combination of these symptoms may render a patient unable to work.
To make matters worse, hATTR is largely an invisible illness—invisible in the sense that it is generally imperceptible to the naked eye, that is, until the patient requires walking aids to move. Illnesses that are not immediately apparent can generate misunderstandings and awkward social interactions, causing patients to withdraw inward, giving rise to a vicious cycle.
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Life with a hATTR Diagnosis
“An individual’s occupational performance is essential for a balanced daily life; by developing specific interventions for these patients, occupational therapy can play an important role in reducing activity limitations, improving personal autonomy, empowering patients to overcome disease-related barriers,” Gayà-Barroso and colleagues wrote in the International Journal of Environment Research and Public Health.
To understand the importance of occupational therapy in the life of a patient, Gayà-Barroso et al conducted semistructured interviews that lasted around 40 to 50 minutes. Due to the COVID-19 pandemic, interviews were conducted via video call. The interviews only concluded when patients were satisfied with all their answers.
Forty-four patients participated in the interview process. The results revealed that around one-third of the patients were able to work, one-third were not (due to their illness), and one-third were retired. The research team also discovered that 29.5% of patients reduced their leisure activities due to their symptoms or to a lack of motivation. Eight-two percent of patients described their diagnosis as having impacted their mental health in some way.
Patients were also evaluated for their physical functionality using the Lawton-Brody Instrumental Activities of Daily Living scale. A total of 86.36% of patients who were in early stages of the disease were physically independent, while 7% in the advanced stages of the disease were moderately dependent. Around half of the patients demonstrated difficulties in performing activities of daily living, regardless of the stage of their disease.
“Our findings demonstrate the significant impact of hATTR diagnosis on occupational performance as well as the need to develop appropriate occupational therapy educational programs aimed at multidisciplinary teams of healthcare professionals, occupational therapists, and hATTR patients to ensure access to occupational therapy services and personalized interventions that may satisfy these patients’ specific occupational needs in a timely manner,” the authors of the study concluded.
Is Access to Occupational Therapy Equitable?
The study by Gayà-Barroso and colleagues clearly establishes the case for occupational intervention in patients with hATTR. However, as they alluded to in their conclusion, equal need does not guarantee equal access. This can be due to low referrals to occupational therapy or to a lack of understanding among patients on how occupational therapy can enhance their quality of life.
In the same journal, Gayà-Barroso and colleagues conducted another study assessing accessibility to occupational therapy services for patients with this disorder. They designed a descriptive, cross-sectional study to explore the use of occupational therapy services among patients with hATTR in Spain via a survey.
Seventy-four patients with hATTR participated in the survey. As expected, patients reported greater difficulties in completing advanced activities of daily living (such as study, work, or hobbies) compared with basic activities (dressing, eating, and grooming).
When asked about their opinion regarding occupational therapy services, 52.7% of patients mentioned that they had never heard of such services. An overwhelming number of participants (82.4%) had never accessed occupational therapy services. Among the 8 individuals who had used occupational therapy services, 23.1% were only referred once their disease had advanced considerably.
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This study suggests that occupational therapy services are facing shortages in demand as opposed to supply. With such a large percentage of patients unfamiliar with occupational therapy, it should come as no surprise that they do not utilize these services, whether they are available or otherwise.
Overall, we can draw 2 conclusions: first, occupational therapy remains consequential in alleviating the difficulties of daily life related to hATTR, but only if it is accessed; second, clinicians must do a better job at educating patients on the benefits of occupational therapy and make appropriate referrals as early as clinically necessary. Only then can we make observations about the effectiveness of occupational therapy in elevating the quality of life of patients living with hATTR.
Gayà-Barroso A, González-Moreno J, Rodríguez A, et al. Establishing occupational therapy needs: a semi-structured interview with hereditary transthyretin amyloidosis patients. Int J Environ Res Public Health. 2022;19(18):11721. doi:10.3390/ijerph191811721
Gayà-Barroso A, González-Moreno J, Rodríguez A, et al. Accessibility to occupational therapy services for hereditary transthyretin amyloidosis. Int J Environ Res Public Health. 2022;19(8):4464. doi:10.3390/ijerph19084464