Literature DB >> 34089151

Multidisciplinary Approaches for Transthyretin Amyloidosis.

Haruki Koike1, Takahiro Okumura2, Toyoaki Murohara2, Masahisa Katsuno3.   

Abstract

Amyloidosis caused by systemic deposition of transthyretin (TTR) is called ATTR amyloidosis and mainly includes hereditary ATTR (ATTRv) amyloidosis and wild-type ATTR (ATTRwt) amyloidosis. Until recently, ATTRv amyloidosis had been considered a disease in the field of neurology because neuropathic symptoms predominated in patients described in early reports, whereas advances in diagnostic techniques and increased recognition of this disease revealed the presence of patients with cardiomyopathy as a predominant feature. In contrast, ATTRwt amyloidosis has been considered a disease in the field of cardiology. However, recent studies have suggested that some of the patients with ATTRwt amyloidosis present tenosynovial tissue complications, particularly carpal tunnel syndrome, as an initial manifestation of amyloidosis, necessitating an awareness of this disease among neurologists and orthopedists. Although histopathological confirmation of amyloid deposits has traditionally been considered mandatory for the diagnosis of ATTR amyloidosis, the development of noninvasive imaging techniques in the field of cardiology, such as echocardiography, magnetic resonance imaging, and nuclear imaging, enabled nonbiopsy diagnosis of this disease. The mechanisms underlying characteristic cardiac imaging findings have been deciphered by histopathological studies. Novel disease-modifying therapies for ATTR amyloidosis, such as TTR stabilizers, short interfering RNA, and antisense oligonucleotides, were initially approved for ATTRv amyloidosis patients with polyneuropathy. However, the indications for the use of these disease-modifying therapies gradually widened to include ATTRv and ATTRwt amyloidosis patients with cardiomyopathy. Since the coronavirus disease 2019 (COVID-19) pandemic, which is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, occurred, the minimization of hospital visits and telemedicine have become increasingly important. As older age and cardiovascular disease are major factors associated with increased disease severity and mortality of COVID-19, many ATTR amyloidosis patients are at increased risk of disease aggravation when they are infected with SARS-CoV-2. From this viewpoint, close interspecialty communication to determine the optimal interval of evaluation is needed for the management of patients with ATTR amyloidosis.

Entities:  

Keywords:  Amyloid angiopathy; Cardiac amyloidosis; Inotersen; Patisiran; Positron emission tomography; Protein misfolding disease; Red flag; Scintigraphy; Tafamidis; Treatment

Year:  2021        PMID: 34089151     DOI: 10.1007/s40119-021-00222-w

Source DB:  PubMed          Journal:  Cardiol Ther        ISSN: 2193-6544


  119 in total

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Review 8.  Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

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Journal:  Orphanet J Rare Dis       Date:  2018-01-17       Impact factor: 4.123

Review 9.  Transthyretin Amyloidosis: Update on the Clinical Spectrum, Pathogenesis, and Disease-Modifying Therapies.

Authors:  Haruki Koike; Masahisa Katsuno
Journal:  Neurol Ther       Date:  2020-09-18

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Journal:  Amyloid       Date:  2020-10-26       Impact factor: 7.141

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  7 in total

1.  Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.

Authors:  Takaki Taniguchi; Masahiro Ando; Yuji Okamoto; Akiko Yoshimura; Yujiro Higuchi; Akihiro Hashiguchi; Nozomu Matsuda; Mamoru Yamamoto; Eisuke Dohi; Makoto Takahashi; Masanao Yoshino; Taichi Nomura; Masaaki Matsushima; Ichiro Yabe; Yui Sanpei; Hiroyuki Ishiura; Jun Mitsui; Masanori Nakagawa; Shoji Tsuji; Hiroshi Takashima
Journal:  J Hum Genet       Date:  2022-01-14       Impact factor: 3.172

2.  Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.

Authors:  Shuai Wang; Wenke Peng; Min Pang; Ling Mao; Daoquan Peng; Bilian Yu; Sha Wu; Die Hu; Yang Yang; Jia He; Mingqi Ouyang
Journal:  Front Cardiovasc Med       Date:  2022-06-27

3.  Italian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran.

Authors:  Vincenzo Di Stefano; Antonella Fava; Luca Gentile; Pietro Guaraldi; Luca Leonardi; Loris Poli; Matteo Tagliapietra; Michele Vastola; Salvatore Fanara; Bruno Ferrero; Mauro Giorgi; Federico Perfetto; Massimo Russo; Domitilla Russo
Journal:  Pharmgenomics Pers Med       Date:  2022-05-12

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

Authors:  Angela Dispenzieri; Teresa Coelho; Isabel Conceição; Márcia Waddington-Cruz; Jonas Wixner; Arnt V Kristen; Claudio Rapezzi; Violaine Planté-Bordeneuve; Juan Gonzalez-Moreno; Mathew S Maurer; Martha Grogan; Doug Chapman; Leslie Amass
Journal:  Orphanet J Rare Dis       Date:  2022-06-18       Impact factor: 4.303

5.  Healthcare resource use associated with the diagnosis of transthyretin amyloidosis cardiomyopathy.

Authors:  Clint Asher; Andrew Guilder; Gherardo Finocchiaro; Gerry Carr-White; Yael Rodríguez-Guadarrama
Journal:  Health Sci Rep       Date:  2022-01-06

Review 6.  Re-Definition of the Epidemiology of Cardiac Amyloidosis.

Authors:  Maddalena Rossi; Guerino Giuseppe Varrà; Aldostefano Porcari; Riccardo Saro; Linda Pagura; Andrea Lalario; Franca Dore; Rossana Bussani; Gianfranco Sinagra; Marco Merlo
Journal:  Biomedicines       Date:  2022-06-30

7.  Cardiomyopathy correlates to nerve damage in p.A117S late-onset transthyretin amyloid polyneuropathy.

Authors:  Yen-Hung Lin; Hsueh-Wen Hsueh; Mao-Yuan Su; Mei-Fang Cheng; Ming-Chang Chiang; Jyh-Ming Jimmy Juang; Yi-Hui Kao; Kai-Chieh Chang; Fang-Ping Feng; Sung-Tsang Hsieh; Chi-Chao Chao
Journal:  Ann Clin Transl Neurol       Date:  2022-08-09       Impact factor: 5.430

  7 in total

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