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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Patient Journey to Transthyretin Cardiac Amyloidosis Diagnosis - A Japanese Claims Database Study
Masatoshi Minamisawa1, Hiroaki Konishi2, Yoshinobu Kitano2
1Department of Cardiovascular Medicine, Shinshu University School of Medicine.
Insights
Diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) is often delayed in Japanese patients, with significant time gaps between symptom onset and diagnosis. Early detection of ATTR-CM is crucial for better patient outcomes.
Area of Science:
- Cardiology
- Rare Diseases
- Epidemiology
Background:
- Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure in older adults.
- Delayed diagnosis of ATTR-CM can lead to advanced disease and symptoms.
Purpose of the Study:
- To describe the diagnostic journey of Japanese patients with ATTR-CM.
- To identify delays between symptom onset and diagnosis in real-world clinical settings.
Main Methods:
- Retrospective, non-interventional study using the DeSC Healthcare database.
- Inclusion criteria: patients aged ≥18 years with tafamidis prescription or ATTR-CM diagnosis between April 2014 and August 2021.
- Analysis of cardiac and extracardiac comorbidities and time to diagnosis.
Main Results:
- Median patient age was 79.0 years; 79.9% were male.
- Common comorbidities included heart failure (87.9%), atrial fibrillation (50.2%), and conduction disorders (17.2%), with diagnosis delays of 15.5, 14.0, and 9.0 months, respectively.
- Extracardiac symptoms like lumbar spinal stenosis (23.9%) and neuropathy (13.0%) also showed diagnostic delays of 19.0 and 5.0 months.
Conclusions:
- A significant delay exists between the onset of cardiac and extracardiac symptoms and the diagnosis of ATTR-CM in Japan.
- These findings highlight the critical need for earlier diagnosis of ATTR-CM in clinical practice.
Background:
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an under-recognized cause of heart failure (HF) in older adults. Delayed ATTR-CM diagnosis may result in more advanced symptoms. This study describes the journey of Japanese patients with ATTR-CM.
Methods And Results:
This retrospective non-interventional study used the DeSC Healthcare database. Patients aged ≥18 years at the index date (date when ATTR-CM was first diagnosed or date of first tafamidis 80 mg prescription, whichever was earlier) and who had received ≥1 tafamidis 80 mg prescription or ≥1 specific ATTR-CM diagnosis, excepting "suspected diagnosis", at any time between April 1, 2014 and August 31, 2021 were included. The median age of patients was 79.0 years, and 79.9% (n=239) were male. The most frequently observed comorbidities defined as indicating the onset of ATTR-CM were HF (87.9%), atrial fibrillation/atrial flutter (50.2%), and conduction disorders (17.2%), with a median time from onset to index date of 15.5, 14.0, and 9.0 months for each comorbidity, respectively. Lumbar spinal stenosis (23.9%), neuropathy (13.0%), and carpal tunnel syndrome (7.5%) were common extracardiac symptoms, with a median time from the appearance of these symptoms to index date of 19.0, 5.0, and 18.0 months, respectively.
Conclusions:
There was a delay between the appearance of cardiac and extracardiac comorbidities of ATTR-CM and its diagnosis in real-world Japanese clinical settings, emphasizing the need for early diagnosis of ATTR-CM.
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