Lost Leisure Time and Sleep Among Ways FAP Affects Life, Patients Say
Living with hereditary transthyretin amyloidosis (hATTR), a group of rare disorders that includes familial amyloid polyneuropathy (FAP), affects the quality of life for both patients and their families, a large questionnaire study in Italy found.
Among the more common and practical consequences for patients were lost leisure time activities and interrupted sleep at night. Families also reported a loss of leisure and holiday time.
Greater help for patients and their caregivers, including more information about hATTR and its available treatments, and greater research spending are needed, the researchers noted.
These findings were in the study, “Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy,” published in the journal Orphanet Journal of Rare Diseases.
hATTR is a rare genetic disorder caused by mutations in the TTR gene. FAP, the most common form of hATTR, mainly affects the peripheral nerves, meaning those found outside the brain and spinal cord. However, hATTR may also impact the brain, spinal cord, heart, and eyes.
The disease is characterized by the progressive decline in neurological function, with symptoms ranging from numbness, weakness, pain, and stiffness in the limbs, to difficulties with movement coordination, stroke, seizures, dementia, and heart failure.
Life quality is affected, and patients may require considerable help from relatives with daily activities, especially if the patient can no longer move independently.
Only a few studies, however, have explored the burden of care both from the patient’s and the relative’s perspective, or the impact of professional or social support, making it more challenging to develop supportive interventions.
A hATTR study was recently carried out in Italy to create a national registry collecting clinical, treatment-related, and genetic information about the disease.
Researchers at the University of Campania Luigi Vanvitelli near Naples, along with colleagues across Italy, now reported data from a study portion that focused on care burden and support services provided to a group of symptomatic hATTR patients and their caregiving relatives, using self-reported questionnaires.
“To our knowledge, this is the first study including both patients and relatives’ psychosocial data carried out at national level,” the team wrote.
The study included 141 patients (106 men and 35 women) with an average age of 66.1, who have been experiencing hATTR symptoms for an average of 6.2 years. Of these, 111 (78.7%) had FAP, while 30 (21.3%) had a form of hATTR that mainly affects the heart, called hATTR-cardiomyopathy (hATTR-CM).
A majority (53%) of patients had nerve sensory impairments affecting their lower limbs but walked without help, whereas 29.8% needed help walking, and 12.8% were wheelchair-bound.
Most of the 69 caregivers included in the analyses were female and spouses, who spent on average 8.1 daily hours caring for their loved ones over the previous two months.
Patient questionnaires included the Problems Questionnaire (PPQ), the Social Network Questionnaire (SNQ), and the hATTR non-pharmacological Patient Care Schedule (hATTR-PCS). Key relatives completed a socio-demographic questionnaire, the family version of the Problems Questionnaire (FPQ), and the hATTR-Family Support Schedule (hATTR-FSS).
According to patients, neglecting hobbies and losing leisure time activities were the most frequently reported practical consequences of having hATTR (72.9 %). Awakening during the night was also reported by 69.1%.
Difficulties with doing work or household activities were reported by 67% of the patients, and 80.6% of them stated voiced worries about the future of other family members.
Most patients reported receiving adequate information from clinicians on their condition (87.9%) and its treatments (85.6%). Sixty-nine percent were sure their friends and relatives would definitely help them in clinical emergencies, and 44.3% were confident they would receive professional help in a crisis.
Among caregivers, 60.9% said they had to neglect their hobbies due to these duties, 59.3% had difficulties taking a vacation, and 75.0% felt worried about other family members’ future.
Most relatives (64%) thought the family was the only source of available help, while 38% expressed confidence in receiving professional help in an emergency situation. Most felt they were given adequate information from clinicians on the disease (72.1%) and its treatments (77.9%).
The practical burden (daily impact of living with the disease) was higher among patients with more severe hATTR, and the psychological burden (mental health impact) was higher among those with FAP than in those with hATTR-CM. A greater burden was also experienced by patients who needing medical interventions in the previous year.
The practical and psychological burden was higher among caregivers with less social support for emergencies and those more involved in providing daily patient care. Psychological burden was also higher among female caregivers and those caring for relatives with FAP.
A comparison between matched patient-relative pairs found the practical burden was significantly higher in patients than among their caregivers. In contrast, the psychological burden was similar between the two groups. Compared to relatives, patients reported better professional and social network support.
A total of 61 patients and 32 relatives provided recommendations on how to improve the overall conditions of patients and families. Improving the quality of care, including opening local health centers covering patient needs, and providing at-home treatments was suggested by 26.2% of patients and 25.0% of relatives.
Additionally, 22.9% of patients and 37.5% of relatives recommended more psychological support and information, and 34.4% emphasized the importance of investing in clinical research for treatment development.
Other recommendations included providing more hATTR-specific education for health professionals, simplifying bureaucratic procedures, providing economic support to patients, promoting public awareness, and setting up self-help groups across Italy.
“These results show that [hATTR] is a disease affecting quality of life of both patients and their families. Supporting interventions should be guaranteed to patients, to facilitate their adaptation to the disease, and to their families, to cope as best as possible with the difficulties that this [disease] may involve,” the researchers concluded.