Hereditary ATTR amyloidosis: a life-threatening, multisystem disease1-4
The disease affects multiple organs, resulting in varying symptoms1,3,4
Because amyloid fibrils are deposited in tissues throughout the body, including the nerves, heart, and GI tract, patients with hATTR amyloidosis can present across a spectrum that includes sensory and motor, autonomic, and cardiac symptoms.1-6
In fact, more than half of patients with hATTR amyloidosis present with a mixed phenotype.7,8
Symptom presentation is highly varied among patients, even within the same mutation. Symptoms can also vary among patients in the same family9
Symptoms of hATTR amyloidosis can progress quickly, leading to life-threatening dysfunction2,3,10
As the disease progresses, symptoms increase in severity, leading to significant disability, decreased quality of life, and untimely death.10,11 hATTR amyloidosis can lead to mortality within 2 to 15 years.2,3,10,12
Due to the variability of the disease, progression of symptoms can also be considerably different from patient to patient.9
- 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.
- Hanna M. Novel drugs targeting transthyretin amyloidosis. Curr Heart Fail Rep. 2014;11(1):50-57.
- Mohty D, Damy T, Cosnay P, et al. Cardiac amyloidosis: updates in diagnosis and management. Arch Cardiovasc Dis. 2013;106(10):528-540.
- Shin SC, Robinson-Papp J. Amyloid neuropathies. Mt Sinai J Med. 2012;79(6):733-748.
- Damy T, Judge DP, Kristen AV, et al. Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis. J Cardiovasc Transl Res. 2015;8(2):117-127.
- Hawkins PN, Ando Y, Dispenzeri A, et al. Evolving landscape in the management of transthyretin amyloidosis. Ann Med. 2015;47(8):625-638.
- Rapezzi C, Quarta CC, Obici L, et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J. 2013;34(7):520-528.
- Adams D, Gonzalez-Duarte A, O’Riordan W, et al. Patisiran, an investigational RNAi therapeutic for the treatment of hereditary ATTR amyloidosis with polyneuropathy: baseline demographics from the phase 3 APOLLO study. In: The XVth International Symposium on Amyloidosis. Uppsala, Sweden: ISA International Society of Amyloidosis; July 3-7, 2016. PA 82.
- Ando Y, Coelho T, Berk JL, et al. Guidelines of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
- Adams D, Coelho T, Obici L, et al. Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. Neurology. 2015;85(8):675-682.
- Adams D, Suhr OB, Hund E, et al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.
- Castano A, Drachman BM, Judge D, et al. Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs. Heart Fail Rev. 2015;20(2):163-178.