A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey

González-Moreno, Juan; Losada-López, Inés Asunción; Cisneros-Barroso, Eugenia; García‐Pavía, Pablo; González‐Costello, José; Muñoz-Beamud, Francisco; Campistol, Josep M.; Fernández‐Torrón, Roberto; Chapman, Doug; Amass, Leslie

doi:10.1007/s40120-021-00267-y

Cited by 10 publications

(1 citation statement)

References 35 publications

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“…Transthyretin Amyloidosis Cardiomyopathy has been considered a rare disease. However, in the last 10 years, mainly due to advances in non-invasive cardiac imaging and diagnostic methods, the condition is currently considered much more common than previously thought, with a substantial increase in the number of diagnosed patients [23,28,29,[37][38][39][40][41].…”

Section: Definition and General Considerationsmentioning

confidence: 99%

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)

Brito,

Albrecht,

de Arenaza

et al. 2023

Global Heart

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Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive and fatal condition that requires early diagnosis, management, and specific treatment. The availability of new disease-modifying therapies has made successful treatment a reality. Transthyretin amyloid cardiomyopathy can be either age-related (wild-type form) or caused by mutations in the TTR gene (genetic, hereditary forms). It is a systemic disease, and while the genetic forms may exhibit a variety of symptoms, a predominant cardiac phenotype is often present. This document aims to provide an overview of ATTR-CM amyloidosis focusing on cardiac involvement, which is the most critical factor for prognosis. It will discuss the available tools for early diagnosis and patient management, given that specific treatments are more effective in the early stages of the disease, and will highlight the importance of a multidisciplinary approach and of specialized amyloidosis centres.To accomplish these goals, the World Heart Federation assembled a panel of 18 expert clinicians specialized in TTR amyloidosis from 13 countries, along with a representative from the Amyloidosis Alliance, a patient advocacy group. This document is based on a review of published literature, expert opinions, registries data, patients' perspectives, treatment options, and ongoing developments, as well as the progress made possible via the existence of centres of excellence.From the patients' perspective, increasing disease awareness is crucial to achieving an early and accurate diagnosis. Patients also seek to receive care at specialized amyloidosis centres and be fully informed about their treatment and prognosis.

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Section: Definition and General Considerationsmentioning

confidence: 99%

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)

Brito,

Albrecht,

de Arenaza

et al. 2023

Global Heart

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“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy

Pereira,

Costa,

Santos

et al. 2024

J Community Genet

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This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for pre-symptomatic testing (PST) at a single genetics outpatient center in Portugal. The data were analyzed qualitatively. The main findings suggest that four themes mark the psychosocial experience of the young adults interviewed. The first refers to the development of psychological representations, namely beliefs, mental representations, and social perceptions about hATTR-PN. The second regards the experienced and anticipated psychosocial impacts, namely, suffering, anxiety, and relief related to the disease. The third is related to using strategies such as performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies to deal with these impacts over time. Finally, the fourth aspect concerns the perceived and expected support for the participants’ needs provided by social contexts, that is, family and genetic counseling. In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population.

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Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey

González-Moreno,

Dispenzieri,

Grogan

et al. 2023

Cardiol Ther

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Introduction Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described. Methods This study describes the mixed phenotype cohort in the Transthyretin Amyloidosis Outcomes Survey (THAOS). THAOS is an ongoing, longitudinal, observational survey of patients with ATTR amyloidosis, including both hereditary (ATTRv) and wild-type disease, and asymptomatic carriers of pathogenic transthyretin variants. Baseline characteristics of patients with a mixed phenotype (at enrollment or reclassified during follow-up) are described (data cutoff: January 4, 2022). Results Approximately one-third of symptomatic patients ( n = 1185/3542; 33.5%) were classified at enrollment or follow-up as mixed phenotype (median age, 66.5 years). Of those, 344 (29.0%) were reclassified to mixed phenotype within a median 1–2 years of follow-up. Most patients with mixed phenotype had ATTRv amyloidosis (75.7%). The most frequent genotypes were V30M (38.9%) and wild type (24.3%). Conclusions These THAOS data represent the largest analysis of a real-world mixed phenotype ATTR amyloidosis population to date and suggest that a mixed phenotype may be more prevalent than previously thought. Patients may also migrate from a primarily neurologic or cardiologic presentation to a mixed phenotype over time. These data reinforce the need for multidisciplinary evaluation at initial assessment and follow-up of all patients with ATTR amyloidosis. Trial Registration ClinicalTrials.gov: NCT00628745.

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A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey

Cited by 10 publications

References 35 publications

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)

“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey

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