1. Daily life in patients with hereditary transthyretin amyloidosis: a qualitative study

Abstract

Topic: Patient Reported Outcomes/Quality of Life Background: Variant transthyretin amyloidosis (ATTRv) is a rare genetic disease that affects patients’ quality of life by affecting various organs and tissues. Despite a wealth of research on medical and psychosocial interventions, the impact of occupational therapy on patients with ATTRv is not well understood. This research focuses on the assessment of activities of daily living and occupations as a fundamental tool in the management of patients after diagnosis. Objective: The aim of this study was to develop an occupational therapy programme for the improvement of daily functioning and quality of life in patients with ATTRv. Methods: After an initial semi-structured interview, fourteen patients with ATTRv were enrolled in the study. The occupational therapist worked with the patient to develop short- and medium-term occupational goals, based on the Model of Human Occupation. During the six-month intervention period, weekly or ten-day sessions were held to monitor and adjust the guidelines. Outcomes were measured using scores for activities of daily living and psychological well-being. Results: The results showed that twelve patients stayed the same in their activities of daily living, two got worse and eight improved their psychological scores and the occupational situation. The study highlights the importance of early intervention and further research into the effectiveness of occupational therapy interventions for patients with ATTRv. It also notes that patients who received occupational therapy intervention reported that 6 months was not enough and emphasizes the fundamental role of the therapist in providing motivation, facilitating meaningful activities, improving daily living and routines.