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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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Multidisciplinary Approaches for Transthyretin Amyloidosis
Haruki Koike1, Takahiro Okumura2, Toyoaki Murohara2
1Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. koike-haruki@med.nagoya-u.ac.jp.
Cardiology and Therapy
|June 5, 2021
Summary
Transthyretin amyloidosis (ATTR amyloidosis) diagnosis and treatment are evolving, impacting neurology, cardiology, and orthopedics. Increased awareness and interspecialty communication are vital for managing ATTR amyloidosis patients, especially during the COVID-19 pandemic.
Area of Science:
- Cardiology
- Neurology
- Orthopedics
- Genetics
Background:
- ATTR amyloidosis, caused by transthyretin deposition, includes hereditary (ATTRv) and wild-type (ATTRwt) forms.
- ATTRv was initially seen as neurological, but cardiomyopathy is now recognized; ATTRwt is linked to cardiology but also tenosynovial complications like carpal tunnel syndrome.
- Traditional diagnosis required histopathology, but noninvasive cardiac imaging now enables biopsy-free diagnosis.
Purpose of the Study:
- To review the evolving understanding of ATTR amyloidosis, encompassing its neurological, cardiac, and orthopedic manifestations.
- To highlight advancements in noninvasive diagnostic techniques for ATTR amyloidosis.
- To discuss the expanding therapeutic landscape and the implications of the COVID-19 pandemic on patient management.
Main Methods:
- Literature review of transthyretin amyloidosis, focusing on diagnostic and therapeutic advancements.
- Analysis of the shift in clinical perception from predominantly neurological to multi-systemic involvement.
- Examination of the impact of novel therapies and the COVID-19 pandemic on patient care strategies.
Main Results:
- ATTR amyloidosis presents diverse manifestations, requiring broader clinical awareness beyond traditional specialties.
- Noninvasive imaging techniques have revolutionized ATTR amyloidosis diagnosis, reducing the need for biopsies.
- Disease-modifying therapies are increasingly approved for various ATTR amyloidosis phenotypes, and interspecialty communication is crucial for optimal patient outcomes, particularly in the context of COVID-19.
Conclusions:
- ATTR amyloidosis is a complex, multi-system disease necessitating collaboration between neurology, cardiology, and orthopedics.
- Advances in diagnostics and therapeutics offer improved management options for ATTR amyloidosis patients.
- Effective patient management requires integrated care approaches and heightened vigilance, especially considering risks associated with COVID-19.
Keywords:
Amyloid angiopathyCardiac amyloidosisInotersenPatisiranPositron emission tomographyProtein misfolding diseaseRed flagScintigraphyTafamidisTreatmentMore Related Videos
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