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Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

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dc.contributor.author Waddington Cruz, Marcia
dc.contributor.author Wixner, Jonas
dc.contributor.author Amass, Leslie
dc.contributor.author Kiszko, Jan
dc.contributor.author Chapman, Doug
dc.contributor.author Ando, Yukio
dc.contributor.author THAOS investigators
dc.contributor.other Barroso, Fabio Adrián
dc.date.accessioned 2021-06-02T14:26:02Z
dc.date.available 2021-06-02T14:26:02Z
dc.date.issued 2021-05-22
dc.identifier.citation Waddington-Cruz M, Wixner J, Amass L, Kiszko J, Chapman D, Ando Y; THAOS investigators. Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Neurol Ther. 2021 May 22. doi: 10.1007/s40120-021-00258-z es_ES
dc.identifier.uri https://doi.org/10.1007/s40120-021-00258-z
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/491
dc.description.abstract Introduction: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a clinically heterogeneous disease caused by mutations in the transthyretin (TTR) gene. The most common mutation, Val30Met, can manifest as an early- or late-onset disease. Methods: The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing, global, longitudinal, observational survey of patients with transthyretin amyloidosis, including both inherited and wild-type disease and asymptomatic patients with TTR mutations. This is a descriptive analysis of symptomatic patients with ATTRv Val30Met amyloidosis with late- (age at least 50 years) vs. early-onset (age less than 50 years) disease in THAOS (data cutoff August 1, 2019). Results: Of 1389 patients with ATTRv Val30Met amyloidosis, 491 (35.3%) had late-onset disease. Compared with early-onset, patients with late-onset were more likely to be male (66.2% vs. 53.6%) and have a longer mean (standard deviation [SD]) time from onset to diagnosis (3.8 [3.4] vs. 2.7 [4.1] years). Late-onset disease was associated with more severe neurological impairment at enrollment (median [10th, 90th percentile] derived Neuropathy Impairment Score in the Lower Limbs, 25.0 [4.0, 69.3] vs. 8.0 [0, 54.8]; Neurologic Composite Score, 42.0 [2.0, 155.0] vs. 21.0 [0, 102.0]). Cardiac findings were more prominent in late-onset disease. An overall interpretation of electrocardiogram as abnormal was reported in 72.1% of late-onset patients (vs. 44.3% early-onset). A left-ventricular septal thickness of at least 12 mm was reported in 69.7% of late-onset patients (vs. 14.6% early-onset). All differences were statistically significant (p < 0.001). Conclusion: In THAOS, late-onset ATTRv Val30Met amyloidosis is common, presenting with more severe neurologic and cardiac findings at enrollment. Heterogeneity of disease may make it more difficult to diagnose. Increased recognition of late-onset ATTRv Val30Met amyloidosis could lead to more timely diagnosis and improve patient outcomes. es_ES
dc.language.iso eng es_ES
dc.publisher Springer es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Amyloidosis, Hereditary, Transthyretin-Related es_ES
dc.subject Amiloidosis es_ES
dc.subject Val30Met es_ES
dc.title Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS) es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Waddington Cruz, Marcia. Federal University of Rio de Janeiro; Brasil.
dc.description.fil Fil: Wixner, Jonas. Umeå University; Suecia.
dc.description.fil Fil: Amass, Leslie. Pfizer Inc; Estados Unidos.
dc.description.fil Fil: Kiszko, Jan. Pfizer Inc; Estados Unidos.
dc.description.fil Fil: Chapman, Doug. Pfizer Inc; Estados Unidos.
dc.description.fil Fil: Ando, Yukio. Kumamoto University; Japón.
dc.description.fil Fil: Barroso, Fabio Adrián. Fleni. Departamento de Neurología. Sección de Enfermedades Neuromusculares; Argentina.
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Nueva York
dc.relation.ispartofISSN 2193-6536
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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