2026-04-29T12:24:11Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/231542024-11-28T21:25:13Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc González-Moreno, Juan author Gaya-Barroso, Aina author Losada-López, Inés author Rodríguez, Adrián author Bosch-Rovira, Teresa author Ripoll-Vera, Tomas author Uson, Mercedes author Figuerola, Antoni author Descals, Cristina author Montala, Carles author Ferrer-Nadal, Maria Asunción author Cisneros-Barroso, Eugenia author 2021-06-10 Background: Hereditary 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 Llatzer 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. Results: Our 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. Conclusion: Our survey results show high psychosocial burden associated with Val50Met-ATTRv in our area. Gonzalez-Moreno J, Gaya-Barroso A, Losada-Lopez I, Rodriguez A, Bosch-Rovira T, Ripoll-Vera T, et al. Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden. Orphanet J Rare Dis. 2021 Jun 10;16(1):266. 10.1186/s13023-021-01910-5 1750-1172 Orphanet Journal of Rare Diseases https://hdl.handle.net/20.500.13003/19900 34112225 L2012332014 2-s2.0-85107461469 https://hdl.handle.net/20.500.12105/23154 664111600004 Hereditary transthyretin amyloidosis Burden of disease Rare disease Well-being Caregivers Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden