Transthyretin Amyloidosis (ATTR)

Disease Education Information

Early Diagnosis and Treatment Are Critical, but Elusive

ATTR amyloidosis is a rare, progressive disease characterized by the abnormal buildup of amyloid deposits composed of misfolded transthyretin protein in the body’s organs and tissues.^1,2 Because symptoms of ATTR amyloidosis are often similar to those of other diseases, the condition can be difficult to recognize and diagnose properly.³ However, ATTR amyloidosis is fatal if untreated, with a life-expectancy ranging between 3-15 years after the onset of symptoms, so early identification, diagnosis, and treatment are critical.⁴

Area of Focus: Rare Disease

Transthyretin Amyloidosis(ATTR) is a focus of our Rare Disease Therapeutic Area.

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References

1. Ruberg FL, Berk JL. Transthyretin (TTR) Cardiac Amyloidosis. Circulation. 2012;126(10):1286-1300.

2. Ando Y, Coelho T, Berk JL, et al. Guideline of Transthyretin-Related Hereditary Amyloidosis for Clinicians. Orphanet J of Rare Diseases. 2013;(8):31.

3. Rapezzi C, et al. Cardiac Amyloidosis: The Great Pretender. Heart Failure Reviews. 2015;(20):117-124.

4. Benson M, et al. Rate of Progression of Transthyretin Amyloidosis. Am J Cardiol. 2011;108(2):285-289.

5. Siddiqi OK, Ruberg FL. Cardiac Amyloidosis: An Update on Pathophysiology, diagnosis and treatment. Trends Cardiovasc Med. 2017;1050-1738.

6. Stewart M, Alvir J, Cicchetti M, et al. Characterizing the High Disease Burden of Transthyretin Amyloidosis for Patients and Caregivers. Neurol Ther. 2018;7(2):349-364.

7. Benson MD, Kincaid JC. The Molecular Biology and Clinical Features of Amyloid Neuropathy. Muscle Nerve. 2007;(36):411-423.

8. Hou X, Aguilar M-I, Small DH. Transthyretin and Familial Amyloidotic Polyneuropathy: Recent Progress in Understanding the Molecular Mechanism of Neurodegeneration. FEBS J. 2007;(274):1637-1650.

9. Shirota Y, Iwata A, Ishiura H, et al. A case of Atypical Amyloid Polyneuropathy with Predominant Upper-Limb Involvement with Diagnosis Unexpectedly Found at Lung Operation. Intern Med. 2010;(49):1627-1631.

10. Pareyson D. Diagnosis of Hereditary Neuropathies in Adult Patients. Neurology. 2003;(250):148-160

11. Planté-Bordeneuve V. Update in the Diagnosis and Management of Transthyretin Familial Amyloid Polyneuropathy. J Neurol. 2014;(26):1227-1233.

12. Schmidt H, Waddington Cruz M, Botteman MF, et al. Global Epidemiology of Transthyretin Familial Amyloid Polyneuropathy: A Systematic Review. Poster presented at the XV International Symposium on Amyloidosis, Jul 3-7, 2016, Uppsala, Sweden.

13. Sekijima Y, Yoshida K, Tokuda T, Ikeda S. Familial Transthyretin Amyloidosis. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2009. http://www.ncbi.nlm.nih.gov/. Accessed April 27, 2016.

14. Planté-Bordeneuve V1, Said G. Familial Amyloid Polyneuropathy. Lancet Neurol. 2011;10(12):1086-97.

15. NIH Genetic and rare Diseases Information Center. Hereditary Amyloidosis. https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis. Accessed February 10, 2020.

16. Conceição I, González-Duarte A, Obici L, et al. “Red-flag” Symptom Clusters in Transthyretin Familial Amyloid Polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5-9.

17. Adams D, et al. Expert Consensus Recommendations to Improve Diagnosis of ATTR Amyloidosis with Polyneuropathy. J Neurol. 2020.

18. Rapezzi C, Quarta CC, Riva L, et al. Transthyretin Related Amyloidoses and the Heart: A Clinical Overview. Nat Rev Cardiol. 2010;(7):398-408.

19. Swiecicki PL, Zhen DB, Mauermann ML, et al. Hereditary ATTR Amyloidosis: A Single-Institution Experience with 266 Patients. Amyloid. 2015;22(2):123-131.

20. Brownrigg J, Lumley M, et al. Diagnostic Performance of Imaging Investigations in Detecting and Differentiating Cardiac Amyloidosis: A Systematic Review and Meta-Analysis. ESC Heart Fail. 2019;6(5):1041-1051.

21. Nativi-Nicolau J, Maurer MS. Amyloidosis Cardiomyopathy: Update in the Diagnosis and Treatment of the Most Common Types. Curr Opin Cardiol. 2018;33(5):571-579.