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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

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

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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. 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. 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.