7 results match your criteria: "Andrade's Center for Familial Amyloidosis[Affiliation]"
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.
Orphanet J Rare Dis
October 2023
Andrade's Center for Familial Amyloidosis, Hospital Santo António, Centro Hospitalar Universitário Do Porto, Porto, Portugal.
Article Synopsis
- Hereditary transthyretin (ATTRv) amyloidosis is an autosomal dominant disorder caused by mutations in the transthyretin gene, leading to a range of symptoms due to amyloid deposits affecting various organs.
- The review highlights best practices from amyloidosis centers in Japan, Brazil, and Portugal, mainly focusing on managing asymptomatic gene mutation carriers and assessing their health through specific noninvasive tests and biopsies.
- It emphasizes the need for regular monitoring (every 6 to 12 months) of patients' overall health and functional status, along with developing robust referral networks for better patient management in both endemic and non-endemic regions.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a progressive multisystemic disease of adult-onset that arises from an inherited mutation in the transthyretin gene. Currently available disease severity and progression evaluation tools only cover one single organ or system, impacting data collection uniformity and its use in clinical settings.
Methods: The Jandhyala Method, including a systematic literature review and SMART interviews, was used to observe expert opinion from eight leaders in the treatment of ATTRv across Europe.
Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.
J Neurochem
March 2021
Department of Neurology, Charité University Medicine, Berlin, Germany.
The liver-derived, circulating transport protein transthyretin (TTR) is the cause of systemic hereditary (ATTRv) and wild-type (ATTRwt) amyloidosis. TTR stabilization and knockdown are approved therapies to mitigate the otherwise lethal disease course. To date, the variety in phenotypic penetrance is not fully understood.
View Article and Find Full Text PDFHealth-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study.
Orphanet J Rare Dis
March 2020
Instituto de Medicina Molecular, Av. Prof. Egas Moniz, 1649-028, Lisbon, Portugal.
Background: Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, we aimed to assess the effect of the disease across health-related quality of life dimensions, in both carriers of the mutation and patients, to compare health-related quality of life with general population, as well as to explore health-related quality of life prognostic factors among patients, including disease progression and treatment.
Methods: This study was a multi-institutional, longitudinal, prospective, observational study of hereditary Transthyretin Amyloidosis Polyneuropathy Portuguese adult subjects (621 asymptomatic carriers and 733 symptomatic patients) enrolled in the Transthyretin Amyloidosis Outcomes Survey.
Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy.
Amyloid
June 2020
Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.
Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) is a rare life-threatening disease that imposes considerable mortality and morbidity associated with increased costs, high social support and productivity losses. This study aims to estimate the societal costs and burden of ATTRv-PN. A cost-of-illness (COI) and burden of disease model were specified from a societal perspective, using a prevalence-based approach.
View Article and Find Full Text PDFNatural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy.
Neurology
November 2018
From the Andrade's Center for Familial Amyloidosis and Department of Neurosciences (T.C.), Hospital de Santo António, Centro Hospitalar do Porto; Instituto de Medicina Molecular (M.I., I.C., M.d.C., J.C.), Laboratório de Farmacologia Clínica e Terapêutica (J.C.), and Centro de Estudos de Medicina Baseada na Evidência (J.C.), Faculdade de Medicina, Universidade de Lisboa; Department of Neurosciences and Mental Health (I.C., M.d.C.), Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal; and Centre for Health Economics (M.S.), University of York, UK.
Objective: To assess the natural history and treatment effect on survival among patients with transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) stage 1 Val30Met.
Methods: Multi-institutional, hospital-based study of patients with TTR-FAP Val30Met prospectively followed up until December 2016, grouped into untreated (n = 1,771), liver transplant (LTx)-treated (n = 957), or tafamidis-treated (n = 432) cohorts. Standardized mortality ratios, Kaplan-Meier, and Cox methods were used to estimate excess mortality, survival, and adjusted hazard ratios (HRs) for all-cause mortality.
Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study.
Neuroepidemiology
September 2019
Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.
Background: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a rare, hereditary, progressive and neurodegenerative disease. We aimed to study -TTR-FAP epidemiology in Portugal.
Methods: National, observational, prospective and retrospective, case identification of adults with TTR-FAP.