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ATTR-CMATTR-CMATTR-CM HomeAbout ATTR-CMMechanism of DiseaseWild-Type ATTR-CMHereditary ATTR-CMSuspect ATTR-CMDetect ATTR-CMResourcesMaterialsVideosTreatment Option
Is ATTR hiding in plain sight?

Transthyretin amyloidosis (ATTR) is an underdiagnosed disease. Learn to suspect and detect the clinical clues.1 

Find out more
What is ATTR amyloidosis?

Amyloidosis refers to a group of diseases in which amyloid fibrils deposit into the extracellular spaces of multiple organs and nerves, ultimately leading to progressive organ dysfunction and nerve damage.1,2

ATTR amyloidosis is caused by the destabilisation and misfolding of transthyretin (TTR) protein—a tetrameric transporter of thyroxine and retinol-binding protein.1,3 

Because the symptoms are similar to other conditions, and it impacts multiple systems in the body, ATTR is often underdiagnosed.1 

A multidisciplinary approach can help recognise the red flags of ATTR that present throughout the body.4

ATTR amyloidosis can manifest as cardiomyopathy and/or polyneuropathy5

There are 2 primary manifestations of ATTR amyloidosis: transthyretin amyloid cardiomyopathy (ATTR-CM) and transthyretin amyloid polyneuropathy (ATTR-PN).5,6

  • Some patients may present with a mixed phenotype, namely, symptoms of both cardiomyopathy and polyneuropathy7
ATTR-CM is an underdiagnosed cause of heart failure2,8

Patients with ATTR-CM present with symptoms of heart failure and may also present with other symptoms, such as atrial fibrillation, carpal tunnel syndrome, or peripheral neuropathy.1,8-11

Suspicion of cardiac involvement should prompt immediate cardiac evaluation to assess for ATTR-CM.4

Multidisciplinary care that involves partnership with cardiologists can uncover appropriate treatments that may lead to improved outcomes.4

Learn about ATTR-CM Loading
ATTR-PN causes irreversible deterioration in neurologic function12​​​​​​​

Patients with ATTR-PN often present with symptoms of progressive sensorimotor neuropathy and autonomic dysfunction and can present with concomitant cardiomyopathy.12

ATTR-PN is progressive and irreversible, and early diagnosis is critical to improve outcomes.12

Learn about ATTR-PN Loading
References:Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis. Circulation. 2017;135(14):1357-1377. doi:10.1161/CIRCULATIONAHA.116.024438Witteles RM, Bokhari S, Damy T, et al. Screening for transthyretin amyloid cardiomyopathy in everyday practice. JACC Heart Fail. 2019;7(8):709-716. doi:10.1016/j.jchf.2019.04.010Liz MA, Coelho T, Bellotti V, Fernandez-Arias MI, Mallaina P, Obici L. A narrative review of the role of transthyretin in health and disease. Neurol Ther. 2020;9(2):395-402. doi:10.1007/s40120-020-00217-0Garcia-Pavia P, Rapezzi C, Adler Y, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42(16):1554-1568. doi:10.1093/eurheartj/ehab072Narotsky DL, Castaño A, Weinsaft JW, Bokhari S, Maurer MS. Wild-type transthyretin cardiac amyloidosis: novel insights from advanced imaging. Can J Cardiol. 2016;32(9):1166.e1-1166.e10. doi:10.1016/j.cjca.2016.05.008Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010;7(7):398-408. doi:10.1038/nrcardio.2010.67 Maurer MS, Bokhari S, Damy T, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail. 2019;12:e006075. doi:10.1161/CIRCHEARTFAILURE.119.e006075Maurer MS, Hanna M, Grogan M, et al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol. 2016;68(2):161-172. doi:10.1016/j.jacc.2016.03.596Connors LH, Sam F, Skinner M, et al. Heart failure resulting from age-related cardiac amyloid disease associated with wild-type transthyretin: a prospective, observational cohort study. Circulation. 2016;133(3):282-290. doi:10.1161/CIRCULATIONAHA.115.018852Pinney JH, Whelan CJ, Petrie A, et al. Senile systemic amyloidosis: clinical features at presentation and outcome. J Am Heart Assoc. 2013;2(2):e000098. doi:10.1161/JAHA.113.000098Nakagawa M, Sekijima Y, Yazaki M, et al. Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. Amyloid. 2016;23(1):58-63. doi:10.3109/13506129.2015.1135792
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