Multidisciplinary approach in the management of hATTR

Losada, Inés; González-Moreno, Juan; Rodríguez, Adrián; Usón, Mercedes; Ripoll‐Vera, Tomás; Ferrer-Nadal, Asunción; Rigo, Elena; Andreu, Hernán; Figuerola, Antoni; Montalà, Juan Carles; Descals, Cristina; Alvarez, Jorge A.; Vega-Mañés, Francisco; Roig, Antonia; Cisneros-Barroso, Eugenia

doi:10.1111/eci.13296

Cited by 6 publications

(4 citation statements)

References 17 publications

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“…This shows the wide dispersion of the disease across the country, and the need for clinical suspicion in non-endemic areas. Moreover, our results highlight the multisystemic nature and phenotypic heterogeneity associated with ATTR amyloidosis in Spain and the importance of a comprehensive multidisciplinary approach for all patients with ATTR amyloidosis [14].…”

Section: Discussionmentioning

confidence: 60%

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

González-Moreno¹,

Losada-López²,

Cisneros-Barroso³

et al. 2021

Neurol Ther

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Introduction: Transthyretin amyloidosis (ATTR amyloidosis) is a clinically heterogeneous disease caused by mutations in the transthyretin (TTR) gene or aggregation of wild-type transthyretin (ATTRwt). In Spain, there are two large endemic foci of ATTR amyloidosis caused by the Val30Met variant, with additional cases across the country; however, these data may be incomplete, as there is no centralized patient registry. The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing, global, longitudinal, observational survey of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic patients with TTR mutations. This analysis aimed to gain a deeper understanding of the clinical profile of patients with ATTR amyloidosis in Spain. Methods: This was a descriptive analysis of the demographic and clinical characteristics of symptomatic patients enrolled at six sites geographically dispersed throughout Spain (data cutoff: January 6, 2020). Patient data at enrollment, including genotype, demographics, and clinical presentation for symptomatic patients, were recorded. Patients were grouped by predominant phenotype based on clinical measures at enrollment: predominantly cardiac,

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Section: Discussionmentioning

confidence: 60%

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

González-Moreno¹,

Losada-López²,

Cisneros-Barroso³

et al. 2021

Neurol Ther

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“…However, classification into these phenotype subgroups is subject to referral bias depending on the availability or absence of a multidisciplinary team and the type of clinical evaluation performed on the patient. As the evidence for the multisystemic nature of the disease grows, a more holistic approach is recommended [ 15 ], which could lead to patients who were initially classified as having a singular phenotype being reclassified as having a mixed phenotype. For example, in one study, 20 of 29 (69%) patients with I68L (p.I88L) ATTRv amyloidosis, traditionally considered a primarily cardiac phenotype, were reclassified as having a mixed phenotype after a complete evaluation [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

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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“…This population has a high priority for genetic counselling, especially in individuals who are close to the age of onset of their already diagnosed relatives (25). This is why genetic counselling at our hospital is usually performed directly at the multidisciplinary monographic consultation for ATTRv disease by the physicians involved in the followup of this disease, instead of the patients being referred to a genetic consultation (26). Accordingly, most patients are not aware that they are already undergoing genetic counselling.…”

Section: Discussionmentioning

confidence: 99%

Val50Met Hereditary Transthyretin Amyloidosis: Not Just a Medical Problem, but a Psychosocial Burden

González-Moreno

Losada-López

Rodríguez

et al. 2020

Preprint

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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.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. In conclusion, our survey results show high psychosocial burden associated with Val50Met-ATTRv in our area.

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Multidisciplinary approach in the management of hATTR

Cited by 6 publications

References 17 publications

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

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

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

Val50Met Hereditary Transthyretin Amyloidosis: Not Just a Medical Problem, but a Psychosocial Burden

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