Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

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Dispenzieri, AngelaDivision of Hematology, Mayo Clinic, MN, Rochester, United States (author)

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) : 14-year update

Article/chapterEnglish2022

Publisher, publication year, extent ...

2022-06-18
BioMed Central (BMC),2022
electronicrdacarrier

Numbers

LIBRIS-ID:oai:DiVA.org:umu-203317
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-203317URI
https://doi.org/10.1186/s13023-022-02359-wDOI

Supplementary language notes

Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs.Methods: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021).Results: This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation.Conclusions: This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease.ClinicalTrials.gov Identifier: NCT00628745.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Neurologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Neurology hsv//eng
Amyloidosis
Cardiomyopathy
Polyneuropathy
Registry
Transthyretin

Added entries (persons, corporate bodies, meetings, titles ...)

Coelho, TeresaUnidade Corino Andrade, Hospital Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal (author)
Conceição, IsabelDepartment of Neurosciences, CHULN, Hospital de Santa Maria, Universidade de Lisboa, Lisbon, Portugal (author)
Waddington-Cruz, MárciaUniversity Hospital, Federal University of Rio de Janeiro, National Amyloidosis Referral Center, CEPARM, Rio de Janeiro, Brazil (author)
Wixner, JonasUmeå universitet,Avdelningen för medicin(Swepub:umu)jowi0065 (author)
Kristen, Arnt V.Department of Cardiology, Angiology, Respiratory Medicine, Medical University of Heidelberg, Heidelberg, Germany (author)
Rapezzi, ClaudioCardiological Centre, University of Ferrara, Ferrara, Italy; Maria Cecilia Hospital, GVM Care & Research, Cotignola, Ravenna, Italy (author)
Planté-Bordeneuve, ViolaineHôpital Henri Mondor – AP-HP, East Paris University, Créteil, France (author)
Gonzalez-Moreno, JuanServicio de Medicina Interna, Hospital Universitario Son Llatzer, Instituto de Investigación Sanitaria Illes Balears, Palma de Mallorca, Spain (author)
Maurer, Mathew S.Columbia University College of Physicians and Surgeons, NY, New York, United States (author)
Grogan, MarthaDepartment of Cardiovascular Diseases, Mayo Clinic, MN, Rochester, United States (author)
Chapman, DougPfizer Inc, NY, New York, United States (author)
Amass, LesliePfizer Inc, NY, New York, United States (author)
Pavia, Pablo GarciaHospital Universitario Puerta de Hierro, Majadahonda, Spain (author)
Tarnev, IvayloAlexandrovska University Hospital Clinic of Neurology, Sofia, Bulgaria (author)
Costello, Jose GonzalezHospital Universitari de Bellvitge, Barcelona, Spain (author)
Briseno, Maria Alejandra Gonzalez DuarteInstituto Nacional de Ciencia Medicas y Nutricion Salvador Zubiran, Distrito Federal, Mexico (author)
Schmidt, HartmutUniversitatsklinikum Muenster – Transplant Hepatology, Muenster, Germany (author)
Drachman, BrianUniversity of Pennsylvania – Perelman Center for Advanced Medicine, PA, Philadelphia, United States (author)
Barroso, Fabio AdrianFLENI, Ciudad Autonoma de Buenos Aires, Argentina (author)
Yamashita, TaroKumamoto University, Kumamoto-City, Japan (author)
Lairez, OlivierCHU de Toulouse – Hôpital Rangueil, Toulouse, France (author)
Sekijima, YoshikiShinshu University School of Medicine, Matsumoto, Japan (author)
Vita, GiuseppeAOU Policlinico G. Martino – Messina – Dr. Vita, Messina, Italy (author)
Jeon, Eun-SeokSamsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea (author)
Hanna, MazenCleveland Clinic Foundation, OH, Cleveland, United States (author)
Slosky, DavidVanderbilt University School of Medicine, TN, Nashville, United States (author)
Luigetti, MarcoFondazione Policlinico Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy (author)
LoRusso, SamanthaThe Ohio University College of Medicine, OH, Columbus, United States (author)
Beamud, Francisco MunozHospital Juan Ramon Jimenez, Huelva, Spain (author)
Adams, DavidCHU de Bicêtre, Paris, France (author)
Moelgaard, HenningAarhus University Hospital, Skejby, Aarhus, Denmark (author)
Press, RayomandKarolinska University Hospital, Stockholm, Sweden (author)
Cirami, Calogero LinoAzienda Ospedaliero-Universitaria Di Careggi, Florence, Italy (author)
Nienhuis, HansUniversity Medical Center Groningen, Groningen, Netherlands (author)
Plana, Josep Maria CampistolInstitut Clinic de Nefrologia i Urologia – ICNU, Hospital Clinic i Provincial de Barcelona, Barcelona, Spain (author)
Inamo, JocelynCHU de Fort-de-France, Fort-de-France, France (author)
Jacoby, DanielSmilow Cancer Hospital at Yale-New Haven, CT, New Haven, United States (author)
Emdin, MicheleFondazione Toscana Gabriele Monasterio Per La Ricerca Medica E Di Sanita Pubblica, Pisa, Italy (author)
Quan, DiannaUC Denver, CO, Aurora, United States (author)
Hummel, ScottUniversity of Michigan, MI, Ann Arbor, United States (author)
Witteles, RonaldStanford University School of Medicine, CA, Stanford, United States (author)
Dori, AmirSheba Medical Center, Ramat Gan, Israel (author)
Shah, SanjivNorthwestern University, IL, Chicago, United States (author)
Lenihan, DanielWashington University School of Medicine, WA, St. Louis, United States (author)
Azevedo, OlgaCentro Hospitalar Do Alto Ave, Epe, Guimaraes, Portugal (author)
Murali, SrinivasWexford Health and Wellness Pavillion, PA, Pittsburgh, United States (author)
Zivkovic, SasaUniversity of Pittsburgh Medical Center (UPMC), PA, Pittsburgh, United States; University of Pittsburgh Medical Center (UPMC), Pittsburgh, United States (author)
Low, Soon ChaiUniversity Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia (author)
Nativi-Nicolau, JoseThe University of Utah Health Sciences Center, UT, Salt Lake City, United States (author)
Fine, NowellUniversity of Alberta Foothills Medical Centre, AB, Calgary, Canada (author)
Tallaj, JoseUniversity of Alabama at Birmingham, AL, Birmingham, United States (author)
Tschoepe, CarstenCharité Campus Rudolf-Virchow-Klinikum, Berlin, Germany (author)
Torrón, Roberto FernandézHospital Universitario Donostia, Gipuzkoa, San Sebastian, Spain (author)
Polydefkis, MichaelJohns Hopkins Hospital, MD, Baltimore, United States (author)
Merlini, GiampaoloCentro per lo Studio e la Cura delle Amiloidosi Sistemiche, Pavia, Italy (author)
Badelita, SorinaInstitutul de Cardiologie Prof. Dr. C. C. Iliescu Spitalului Fundeni, Bucharest, Romania (author)
Gottlieb, StephenUniversity of Maryland, MD, Baltimore, United States (author)
Tauras, JamesMontefiore Medical Center-Jack D. Weiler Hospital, NY, Bronx, United States (author)
Correia, Edileide BarrosInstituto Dante Pazzanese De Cardiologia, Sao Paulo, Brazil (author)
Ventura, HectorJohn Ochsner Heart & Vascular Institute, LA, New Orleans, United States (author)
Gess, BurkhardUniversity Hospital of RWTH Aachen, Aachen, Germany (author)
Darstein, FelixJohann-Gutenberg-Universität, Mainz, Germany (author)
Oh, JeeyoungKonkuk University Medical Center, Seoul, South Korea (author)
Marburger, TessaOregon Health and Science University, OR, Portland, United States (author)
Van Cleemput, JohanAfdeling Klinische Cardiologie, O&N I, Louvain, Belgium (author)
Salutto, Valeria LujanInstituto De Investigaciones Medicas Dr Alfredo Lanari, Buenos Aires, Argentina (author)
Parman, YesimDepartment of Neurology, Istanbul University, Istanbul, Turkey (author)
Chao, Chi-ChaoNational Taiwan University Hospital, Taipei, Taiwan (author)
Sarswat, NitashaUniversity of Chicago Medical Center, IL, Chicago, United States (author)
Mueller, ChristopherMedical College of Wisconsin, WI, Milwaukee, United States (author)
Steidley, DavidMayo Clinic Arizona, AZ, Phoenix, United States (author)
Ralph, JeffreyDepartment of Neurology, University of CA – San Francisco, CA, San Francisco, United States (author)
Warner, AlbertaVA Greater Los Angeles Healthcare System, CA, Los Angeles, United States (author)
Cotts, WilliamAdvocate Christ Medical Centre, IL, Oak Lawn, United States (author)
Hoffman, JamesUniversity of Miami Hospital & Clinics, FL, Miami, United States (author)
Rugiero, MarceloHospital Italiano de Buenos Aires (HIBA), Buenos Aires, Argentina (author)
Misawa, SonokoChiba University Hospital, Chiba-shi, Japan (author)
Blanco, Jose Luis MunozHospital Gregorio Marañón, Madrid, Spain (author)
Davila, Lucia GalanHospital Clinico San Carlos, Madrid, Spain (author)
Sadeh, MenachemWolfson Medical Center, Holon, Israel (author)
Luo, JinTemple University School of Medicine, PA, Philadelphia, United States (author)
Kyriakides, TheodorosCyprus Institute of Neurology and Genetics, Nicosia, Cyprus (author)
Wang, AnnabelUniversity of California Irvine, CA, Orange, United States (author)
Kaufmann, HoracioNYU Medical Center, NY, New York, United States (author)
Division of Hematology, Mayo Clinic, MN, Rochester, United StatesUnidade Corino Andrade, Hospital Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal (creator_code:org_t)

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By the author/editor: Dispenzieri, Ang ...; Coelho, Teresa; Conceição, Isabe ...; Waddington-Cruz, ...; Wixner, Jonas; Kristen, Arnt V.; show more...; Rapezzi, Claudio; Planté-Bordeneuv ...; Gonzalez-Moreno, ...; Maurer, Mathew S ...; Grogan, Martha; Chapman, Doug; Amass, Leslie; Pavia, Pablo Gar ...; Tarnev, Ivaylo; Costello, Jose G ...; Briseno, Maria A ...; Schmidt, Hartmut; Drachman, Brian; Barroso, Fabio A ...; Yamashita, Taro; Lairez, Olivier; Sekijima, Yoshik ...; Vita, Giuseppe; Jeon, Eun-Seok; Hanna, Mazen; Slosky, David; Luigetti, Marco; LoRusso, Samanth ...; Beamud, Francisc ...; Adams, David; Moelgaard, Henni ...; Press, Rayomand; Cirami, Calogero ...; Nienhuis, Hans; Plana, Josep Mar ...; Inamo, Jocelyn; Jacoby, Daniel; Emdin, Michele; Quan, Dianna; Hummel, Scott; Witteles, Ronald; Dori, Amir; Shah, Sanjiv; Lenihan, Daniel; Azevedo, Olga; Murali, Srinivas; Zivkovic, Sasa; Low, Soon Chai; Nativi-Nicolau, ...; Fine, Nowell; Tallaj, Jose; Tschoepe, Carste ...; Torrón, Roberto ...; Polydefkis, Mich ...; Merlini, Giampao ...; Badelita, Sorina; Gottlieb, Stephe ...; Tauras, James; Correia, Edileid ...; Ventura, Hector; Gess, Burkhard; Darstein, Felix; Oh, Jeeyoung; Marburger, Tessa; Van Cleemput, Jo ...; Salutto, Valeria ...; Parman, Yesim; Chao, Chi-Chao; Sarswat, Nitasha; Mueller, Christo ...; Steidley, David; Ralph, Jeffrey; Warner, Alberta; Cotts, William; Hoffman, James; Rugiero, Marcelo; Misawa, Sonoko; Blanco, Jose Lui ...; Davila, Lucia Ga ...; Sadeh, Menachem; Luo, Jin; Kyriakides, Theo ...; Wang, Annabel; Kaufmann, Horaci ...; show less...

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