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Clinical and genoty...
Clinical and genotype characteristics and symptom migration in patients with mixed phenotype transthyretin amyloidosis from the transthyretin amyloidosis outcomes survey
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- González-Moreno, Juan (författare)
- Servicio de Medicina Interna, Hospital Universitario Son Llatzer, Instituto de Investigación Sanitaria Illes Balears, Palma, Spain
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- Dispenzieri, Angela (författare)
- Division of Hematology, Mayo Clinic, MN, Rochester, United States
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- Grogan, Martha (författare)
- Department of Cardiovascular Diseases, Mayo Clinic, MN, Rochester, United States
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- Coelho, Teresa (författare)
- Unidade Corino Andrade, Hospital Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal
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- Tournev, Ivailo (författare)
- Department of Neurology, Clinic of Nervous Diseases, UMBAL Aleksandrovska, Medical University, Sofia, Bulgaria; Department of Cognitive Science, New Bulgarian University, Sofia, Bulgaria
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- Waddington-Cruz, Márcia (författare)
- National Amyloidosis Referral Center, CEPARM, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
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- Wixner, Jonas (författare)
- Umeå universitet,Institutionen för folkhälsa och klinisk medicin
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- Diemberger, Igor (författare)
- Department of Medical and Surgical Sciences, DIMEC, University of Bologna, Bologna, Italy; UOC di Cardiologia, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Dipartimento Cardiotoraco-vascolare, via Massarenti 9, 40138, Bologna, Italy
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- Garcia-Pavia, Pablo (författare)
- Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, CIBERCV, Madrid, Spain; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain
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- Chapman, Doug (författare)
- Pfizer Inc, NY, New York, United States
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- Gupta, Pritam (författare)
- Pfizer Healthcare India Pvt. Ltd, Chennai, India
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- Glass, Oliver (författare)
- Pfizer Inc, NY, New York, United States
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- Amass, Leslie (författare)
- Pfizer Inc, NY, New York, United States
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(creator_code:org_t)
- Springer Nature, 2024
- 2024
- Engelska.
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Ingår i: Cardiology and Therapy. - : Springer Nature. - 2193-8261 .- 2193-6544. ; 13, s. 117-135
- Relaterad länk:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- Amyloidosis
- Cardiomyopathy
- Mixed phenotype
- Polyneuropathy
- THAOS
- Transthyretin
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- ref (ämneskategori)
- art (ämneskategori)
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González-Moreno, ...
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Dispenzieri, Ang ...
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Grogan, Martha
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Coelho, Teresa
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Tournev, Ivailo
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Waddington-Cruz, ...
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visa fler...
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Wixner, Jonas
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Diemberger, Igor
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Garcia-Pavia, Pa ...
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Chapman, Doug
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Gupta, Pritam
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Glass, Oliver
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Amass, Leslie
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visa färre...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Kardiologi
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
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Cardiology and T ...
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Umeå universitet