Abstract
BackgroundHereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s functional autonomy negatively affects the patient’s quality of life and requires increasing involvement of relatives in the patient’s daily life. Family caregiving may become particularly demanding when the patient is no longer able to move independently. This study is focused on the psychosocial aspects of ATTRv from the patient and relative perspectives. In particular, it explored: the practical and psychological burdens experienced by symptomatic patients with ATTRv and their key relatives and the professional and social network support they may rely on; whether burden varied in relation to patients’ and relatives’ socio-demographic variables, patients’ clinical variables, and perceived professional and social network support; and, any difference in burden and support between patients and their matched relatives.MethodsThe study was carried out on symptomatic patients included in the ATTRv Italian national registry and living with at least one adult relative not suffering from severe illness and being free from ATTRv symptoms. Patients and relatives’ assessments were performed using validated self-reported tools.ResultsOverall, 141 patients and 69 relatives were evaluated. Constraints of leisure activities, feelings of loss and worries for the future were the consequences of ATTRv most frequently reported by patients and relatives. Both in patients and their relatives, the burden increased with the duration of symptoms and the level of help in daily activities needed by the patient. In the 69 matched patient-relative pairs, the practical burden was significantly higher among the patients than among their relatives, while the psychological burden was similar in the two groups. Moreover, compared to their relatives, patients with ATTRv reported higher levels of professional and social network support.ConclusionsThese results show that ATTRv 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 pathology may involve.
Highlights
Hereditary transthyretin amyloidosis, alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy
Magliano et al Orphanet J Rare Dis (2021) 16:163. These results show that ATTRv is a disease affecting quality of life of both patients and their families
The 69 patients whose key-relatives participated were comparable with the 72 patients whose key-relatives did not with respect to the main sociodemographic variables except for marital status (60/69 married patients among those whose relatives participated vs. 42/66 married patients among those whose relatives were not assessed, χ2 = 8.6, df 1, p < .005), and with respect to the main clinical characteristics except for help needed in daily activities
Summary
Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy [1]. This disease is present worldwide, with the highest prevalence in Northern Portugal, Northern Sweden, Japan, Majorca and Cyprus [2,3,4,5]. Late-onset patients with common mutation Val30Met (Table 1) from non-endemic areas have different phenotype from early-onset cases from endemic foci in Portugal and Japan, since these patients tend to manifest loss of all sensory modalities, mild autonomic dysfunctions, and heart failure with massive cardiac amyloid deposition. Two innovative and very effective gene silencing therapies have reached the market [9]
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