Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.

ABSTRACT:

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 as

SUBMITTER: Gonzalez-Moreno J 

PROVIDER: S-EPMC8191011 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature