ArticleOrphanet journal of rare diseases2021
Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Detecting Polyneuropathy in Patients with Hereditary Transthyretin Amyloid Cardiomyopathy.CJC open · 2026Article
- Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv).Orphanet journal of rare diseases · 2025Observational
- Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review.Biomedicines · 2023Review
- Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study.Orphanet journal of rare diseases · 2023Article
- Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.Orphanet journal of rare diseases · 2023Review
- Article
- A survey exploring caregiver burden and health-related quality of life in hereditary transthyretin amyloidosis.Orphanet journal of rare diseases · 2023Article
- Establishing Occupational Therapy Needs: A Semi-Structured Interview with Hereditary Transthyretin Amyloidosis Patients.International journal of environmental research and public health · 2022Article
- Current and Emerging Therapies for Hereditary Transthyretin Amyloidosis: Strides Towards a Brighter Future.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
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12 authors.
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Abstract
backgroundHereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may also be accompanied by gastrointestinal impairment, cardiomyopathy, nephropathy and/or ocular deposition. The disease is thus associated with a high degree of patient disability. Accordingly, we aimed to describe the psychosocial burden associated with ATTRv in a group of patients, asymptomatic Val50Met carriers, relatives and caregivers in the endemic focus of the disease in Majorca via a survey addressing various aspects related to psychosocial burden. We performed a an observational, descriptive, cross-sectional and multicentre study in order to analyze the prevalence of self-reported impact of ATTRv disease upon their daily life. In addition to the self-knowledge, fear and burden related to the disease. The survey was disseminated during the regular follow up at the outpatient clinic of the Hospital Universitario Son Llàtzer and during the meetings organized by the Andrade's Disease patients' advocacy group from the Balearic Islands. These meetings were attended also by subjects followed up by the Hospital Universitario Son Espases and their caregivers and relatives. Survey was self-administrated. No intervention was done by the investigators. 85 subjects completed the survey: 61 carrying the TTR-V50M variant and 24 caregivers or relatives.
resultsOur study revealed that, although most of the population studied had had prior contact with ATTRv through affected relatives, there was still a lack of information regarding disease diagnosis. Fear of the genetic test result and psychological issues were common in our population. Moreover, the disease had a stronger impact on the daily life of our patients than that of our asymptomatic carriers. Autonomic symptoms were the main source of burden for relatives and caregivers.
conclusionOur survey results show high psychosocial burden associated with Val50Met-ATTRv in our area.
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