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Multicenter Study
. 2021 Oct;8(2):e001755.
doi: 10.1136/openhrt-2021-001755.

Nationwide prevalence and characteristics of transthyretin amyloid cardiomyopathy in Sweden

Rosa Elisabeth Lauppe  1 , Johan Liseth Hansen  1   2 , Christian Gerdesköld  3 , Mark H Rozenbaum  4 , Anne Mette Strand  5 , Merja Vakevainen  6 , Johanna Kuusisto  7 , Einar Gude  8 , Finn Gustafsson  9 , J Gustav Smith  10   11
Affiliations
Multicenter Study

Nationwide prevalence and characteristics of transthyretin amyloid cardiomyopathy in Sweden

Rosa Elisabeth Lauppe et al. Open Heart. 2021 Oct.

Abstract

Objective: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare, progressive and fatal condition caused by deposition of transthyretin amyloid fibrils in the heart. This study aims to identify all patients diagnosed with ATTR-CM in Sweden, estimate the prevalence of ATTR-CM, describe patient characteristics and mortality, assess the importance of early symptoms (red flags) for identification of ATTR-CM, and compare with patients with heart failure (HF).

Methods: This retrospective study combined multiple national health registers covering all specialist visits and prescriptions for the entire population of Sweden. Between January 2008 and December 2018, patients with ATTR-CM were identified retrospectively based on a combination of diagnosis codes and compared with matched, all-cause non-ATTR HF patients.

Results: Overall, a total of 994 patients diagnosed with ATTR-CM were identified, with an average age at diagnosis of 73 years, and 30% of whom were female. The prevalence of diagnosed ATTR-CM cases in 2018 was 5.0 per 100 000. The median survival from diagnosis was 37.6 months (CI 33.8 to 43.8), with a lower median survival in women (27.9 months, CI 23.3 to 33.8) compared with men (43.5 months, CI 37.6 to 49.6). Patients with ATTR-CM demonstrated reduced survival compared with patients with HF (p<0.001). Compared with patients with HF, clinical identification of carpal tunnel syndrome, spinal stenosis, and atrioventricular and left bundle branch block can facilitate earlier diagnosis of ATTR-CM.

Conclusions: This study provides the first nationwide estimates of ATTR-CM prevalence and risk factors. The results reinforce the severity of the disease and the importance of earlier diagnosis, especially for female patients, in order to allow effective treatment and prevention of disease progression.

Keywords: cardiomyopathies; epidemiology; heart failure; risk factors.

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Conflict of interest statement

Competing interests: REL and JLH are employed by Quantify Research and funded by Pfizer to conduct this study; Quantify Research is a consultancy and works with a range of different pharmaceutical companies. CG, MHR, AMS and MV are Pfizer employees and hold Pfizer stock and/or stock options. JK received support from Pfizer for her collaboration in this manuscript, as well as grants or contracts from Sanofi, Pfizer and Amgen, Kuopio University Hospital, and Finnish Heart Research Foundation Academy of Finland. JK also received consulting fees and honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from Sanofi, Pfizer, Amicus, Bayer, Amgen and MSD, as well as support for attending meetings from Sanofi, Pfizer, Amicus, Bayer, Amgen, MSD, Shire and Novo Nordisk. JK has received support for participation on a Data Safety Monitoring Board or Advisory Board from Amgen, Pfizer, Amicus and Sanofi. JK is also President (future/present/past) of the Finnish Society of Internists (2015–2021) and is the leader of the grant board at the Finnish Society of Medicine. EG has not received personal payments or support; his institution has received grants for work on this study and honoraria for lectures from Pfizer. FG received honoraria for his consulting services from Pfizer, Alnylam and Ionis.

Figures

Figure 1
Figure 1
ATTR-CM patient identification. AM, amyloidosis; ATTR-CM, transthyretin amyloid cardiomyopathy; CM, cardiomyopathy; HF, heart failure.
Figure 2
Figure 2
2018 prevalence in the Swedish regions.
Figure 3
Figure 3
Kaplan-Meier curve for overall survival of (A) patients with ATTR-CM and HF and (B) patients with ATTR-CM by sex. ATTR-CM, transthyretin amyloid cardiomyopathy; HF, heart failure.
See this image and copyright information in PMC

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