A new study reports that individuals who care for patients with hereditary transthyretin amyloidosis (hATTR) have a lower health-related quality of life and higher rates of stress, anxiety, depression, and sleep problems than control individuals. The study, published in the Orphanet Journal of Rare Diseases, found that caregivers spent an average of 10 hours per day on practical and emotional care.

“The present study aimed to provide a more robust and detailed understanding of the ATTRv caregiver burden,” the authors wrote. “More specifically, this study aimed to capture caregiver burden using validated measures of health-related quality of life (EQ-5D), anxiety and depression (Hospital anxiety and depression scale) and bespoke assessments of time spent providing care, career impacts and chronic health conditions.”

The research team conducted a cross-sectional, online survey of 36 caregivers of people with hATTR from the UK, US, Canada, Australia and New Zealand, and 36 age and sex-matched general population controls to assess caregiver burden. Most caregivers (78%) were caring for a partner or spouse and the remainder cared for other family members.

The survey covered patient characteristics, sociodemographic data, and 2 validated questionnaires: the EQ-5D-3L and the Hospital anxiety and depression scale (HADS) to assess quality of life.

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The results revealed a significant negative impact of caregiving on the mental health of caregivers. Caregivers reported higher anxiety, depression, and sleep problems than controls, as well as overall lower health-related quality of life scores on the EQ-5D-3L questionnaire. A patient’s loss of ambulation was noted as the main source of caregiver burden.

However, caregivers did not report their anxiety and depression to be chronic conditions more often than controls.

The authors caution that the small sample size limits the ability to draw firm conclusions, but the results are consistent with other studies on hATTR that have been conducted to assess caregiver burden.  


Acaster S, Lo SH, Nestler-Parr S. A survey exploring caregiver burden and health-related quality of life in hereditary transthyretin amyloidosis. Orphanet J Rare Dis. Published online January 26, 2023. doi.10.1186/s13023-022-02601-5