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Updated: Jul 11, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study
Aina Gayà-Barroso1,2, Juan González-Moreno1,2, Adrián Rodríguez1,2
1Internal Medicine Department, Son Llàtzer University Hospital, Palma, Spain.
Background:
Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the involvement of various organs and tissues. Despite a large amount of research on medical and psychosocial interventions, the impact of occupational therapy (OT) on patients with ATTRv is not well understood.
Objective:
The aim of this study was to develop an OT programme to improve the daily functioning and quality of life of patients with ATTRv.
Methods:
Fourteen patients with ATTRv were interviewed. Together they developed short- and medium-term occupational goals. Patients received the OT intervention for six months. Outcomes were measured using scores for activities of daily living and psychological well-being.
Results:
The study found that OT can have a positive impact as a complementary intervention to medical and other psychosocial treatments. Of the 14 patients, 12 maintained the same scores in activities of daily living. Two deteriorated and eight improved their psychological scores.
Conclusion:
This study highlights the need for further research in this area and the importance of OT in the management of patients with ATTRv. Early intervention is of paramount importance and further research is needed to evaluate the long-term effects of OT interventions in patients with ATTRv.
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