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ATTR-CM

Transthyretin amyloidosis cardiomyopathy (ATTR-CM)

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What is Amyloidosis?

Amyloidosis is a group of complex rare diseases caused by abnormal proteins that misfold and clump together to form amyloid deposits in tissues or organs, including the heart, kidney and peripheral nerves.1-3

This build up can result in significant organ damage and organ failure that can severely impact quality of life and can ultimately be fatal.1-3

What is ATTR-CM?

ATTR-Cardiomyopathy (ATTR-CM) is a systemic and progressive type of amyloidosis caused by the breakdown, misfolding, aggregation and deposition of a protein called transthyretin (TTR) in the heart. TTR is a protein primarily produced in the liver that mainly serves to transport vitamin A and a thyroid hormone called thyroxine. The buildup of these misfolded proteins in the heart can lead to cardiomyopathy, a condition of the heart muscle that makes it hard for the heart to pump blood and can lead to heart failure.3-7

Diagnosed prevalence


ATTR-CM can be hereditary, which occurs when mutations in the TTR gene are passed down from parents, or non-hereditary (wild-type), which does not have a known cause.7

The hereditary form of the disease affects people as young as 20 years old, while the non-hereditary form predominantly affects people over the age of 60.8,9

Worldwide, there are an estimated 300,000 - 500,000 people living with ATTR-CM.10,11

Symptoms:

People with ATTR-CM may experience a range of signs and/or symptoms, including:6,12-14

Fatigue

Difficult breathing (dyspnoea)

Dizziness

Weakness

Loss of consciousness

Swelling of the lower legs or ankles (oedema)

Irregular heartbeat or heart rate (arrhythmia)

Carpal tunnel syndrome

Spinal stenosis (narrowing of the spinal canal)

And many other vague symptoms

that mimic other diseases that often complicate diagnosis

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References

  1. Mollee P, et al. How to diagnose amyloidosis. Internal Medicine Journal. 2014;44:7-17.
  2. Comenzo RL. How I treat amyloidosis. Blood. 2009;114(15):3147-3157.
  3. Witteles RM, et al. Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. JACC: Heart Failure. 2019;7(8):709-716.
  4. Chako L, et al. Cardiac Amyloidosis: Updated in Imaging. Curr Cardiol Rep. 2019; 21:108.
  5. Baker KR, et al. The Amyloidoses: Clinical Feaures, Diagnosis and Treatment. Methodist Debakey Cardiovasc J. 2012;8:3-7.
  6. Cuddy SAM, et al. Amyloidosis as a Systemic Disease in Context. Can J Cardiol. 2020;36:396-407.
  7. Hanna M, et al. Tafamidis and quality of life in people with transthyretin amyloid cardiomyopathy in the study ATTR-ACT: A plain language summary. Future Cardiol. 2022;18(3): 165-172.
  8. Conceição I, et al. Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression. Amyloid. 2019;26(3):103-111
  9. Nativi-Nicolau JN, et al. Natural history and progression of Transthyretin amyloid cardiomyopathy: insights from ATTR-ACT. ESC Heart Failure. 2021;8:3875-3884.
  10. Mohamed-Salem L, et al. Prevalence of wild type ATTR assessed as myocardial uptake in bone scan in the elderly population. Int J Cardiol. 2018;270:192-196.
  11. Cuscaden C, et al. Estimation of prevalence of transthyretin (ATTR) cardiac amyloidosis in an Australian subpopulation using bone scans with echocardiography and clinical correlation. J Nucl Cardiol. 2021;28(6):2845-2856.
  12. Yamamato H, et al. Transthyretin cardiac amyloidosis: an update on diagnosis and treatment. ESC Heart Fail. 2019;6:1128-1139.
  13. Muchtar E, et al. Systemic amyloidosis from A (AA) to T (ATTR): a review. J Intern Med. 2021;289:268-292.
  14. Nativi-Nicolau JN, et al. Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness. Heart Failure Reviews. 2022;27:785-793.
  15. Emdin M, et al. Treatment of cardiac transthyretin amyloidosis: an update. European Heart Journal. 2019;40:3699-3706.
  16. Maurer MS, et al. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transtheyretin Cardiac Amyloidosis. Circ Heart Fail. 2019;12.
  17. Ando Y, et al. Guideline of Transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
  18. Hawkins PN et al. Ann Med. 2015;47(8):625-638.
  19. Rozenbaum MH et al. Cardiol Ther. 2021;10:141-159.
  20. Ruberg FL, et al. Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-ART Review. J Am Coll Cardiol. 2019;73(22):2872-2891.
  21. Rozenbaum MH, et al. Health impact of tafamidis in Transthyretin amyloid cardiomyopathy patients: an analysis from the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and the open-label long-term extension studies. European Heart Journal. 2022;8:529-538.

Veeva ID: GL/UNB-AML/0013

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