Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

Abstract

Background Hereditary 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. Methods The 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. Results Overall, 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. Conclusions These 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.

Italian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran

“…The progressive decline of neurological functions, which is variably associated with disabling cardiological, sensori-motor, and autonomic symptoms, negatively affects the patient’s quality of life and requires increasing involvement of relatives in the patient’s daily life. 4 Hence, specific scales are commonly used to define the severity of polyneuropathy in ATTRv amyloidosis: the familial amyloid polyneuropathy stage (FAP), and polyneuropathy disability (PND) scores with FAP stage 1 and PND score 1 depicting a patient with mild neuropathy and preserved ambulation, while FAP stage 3 and PND score 4 describe bedridden patients unable to stand up. 4 …”

“… 4 Hence, specific scales are commonly used to define the severity of polyneuropathy in ATTRv amyloidosis: the familial amyloid polyneuropathy stage (FAP), and polyneuropathy disability (PND) scores with FAP stage 1 and PND score 1 depicting a patient with mild neuropathy and preserved ambulation, while FAP stage 3 and PND score 4 describe bedridden patients unable to stand up. 4 …”

Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients

“…Distinct datasets collect genetic and clinical information on SMA, CMT, familial amyloidosis of TTR-type, muscle glycogenoses, spinal and bulbar muscular atrophy, congenital myopathies, and muscular dystrophies (congenital, limb girdle, and facio-scapulo-humeral dystrophy types). These registries include both clinician-reported [ 25 , 48 ] and patient-reported [ 49 , 50 ] forms. Aggregated data derived from the NMD registry were also provided to industry for feasibility studies, establishing a transparent process of data sharing that contributes to the registry sustainability (unpublished).…”

“…With this particular investment, Telethon and UILDM meant to stimulate clinical researchers to approach medical research in a more person-centred manner. Some studies directly involved patients and caregivers, for instance, engaging them in surveys on QoL, disease burden and needs for psychosocial support [ 40 , 41 , 50 ], and collection of information on their medical requirements [ 15 , 49 , 52 ]. POs focused on DMD and their patient representatives participated in the development of a new functional scale that reflects patient mobility needs and daily life activities [ 33 , 34 ] and patient-reported functional OM [ 35 ].…”

“…They engaged in longitudinal data collection to increase knowledge on natural history for several NMDs, and standardised methods to evaluate patients [36][37][38][39]. They identified and challenged new pharmacological [42][43][44][45] or physical [31] therapy approaches and collected information on psychosocial burden to implement support actions [41,50]. By presenting the ongoing results during the scientific meetings and POs' congresses, they promoted the sharing of information and new ideas.…”