The information on this site is intended for healthcare professionals only.
The Hereditary ATTR Amyloidosis Learning Zone is an educational resource for healthcare professionals that provides medical information on the epidemiology, pathophysiology and burden of hereditary ATTR amyloidosis, as well as diagnostic techniques and treatment regimens.
Please choose the most relevant module for your specialty; one focuses on neurological symptoms and the other focuses on cardiac symptoms.
Learn about the pathophysiology, epidemiology, diagnosis and management of hereditary ATTR amyloidosis, with a focus on the neurological symptoms associated with the disease. Dr Isabel Conceição discusses the importance of early and accurate diagnosis.
Learn about the pathophysiology, epidemiology, diagnosis and management of hereditary ATTR amyloidosis, with a focus on the cardiac symptoms associated with the disease. Dr Pablo García-Pavia discusses the importance of early and accurate diagnosis.
Hereditary ATTR amyloidosis is a multi-system, life-threatening disease caused by a mutation in the TTR gene. This results in misfolded TTR accumulating in the nerves, heart and gastrointestinal tract, with heterogeneous presentation and varying prognosis according to the specific genetic mutation (Hanna, 2014; Damy et al., 2015). The heterogeneous presentation of hereditary ATTR amyloidosis can make it difficult to identify the underlying cause, and diagnosis can be delayed for many patients, with a mean delay in diagnosis of 4 years (Planté-Bordeneuve et al., 2007; Hawkins et al., 2015). Without early, accurate diagnosis, hereditary ATTR amyloidosis can progress quickly and lead to premature death (Gertz et al., 1992; Sattianayagam et al., 2012; Swiecicki et al., 2015).
Patients can present primarily with either polyneuropathy or cardiomyopathy symptoms; however, a substantial proportion present with a mixed phenotype, which may include sensory, motor, autonomic or cardiac symptoms and, in some cases, gastrointestinal, eye or kidney involvement (Sekijima, 2015). Therefore, diagnosing this rapidly progressive and life-threatening disease can involve multiple disciplines, with neurologists and cardiologists playing a critical role.
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Gertz MA, Kyle RA, Thibodeau SN. Familial amyloidosis: a study of 52 North American-born patients examined during a 30-year period. Mayo Clin Proc. 1992;67:428–40.
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Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Evolving landscape in the management of transthyretin amyloidosis. Ann Med. 2015;47:625–38.
Planté-Bordeneuve V, Ferreira A, Lalu T, Zaros C, Lacroix C, Adams D, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 2007;69:693–8.
Sattianayagam PT, Hahn AF, Whelan CJ, Gibbs SD, Pinney JH, Stangou AJ, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J. 2012;33:1120–7.
Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry. 2015;86:1036–43.
Swiecicki PL, Zhen DB, Mauermann ML, Kyle RA, Zeldenrust SR, Grogan M, et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015;22:123–31.