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

Constellation of possible signs and symptoms of hATTR amyloidosis
Multisystem clinical manisfestation can include symptoms of peripheral neuropathy, cardiomyopathy, and dysautonomia
*indicates most common signs and symptoms1
Adapted from Conceição I, et al. J Peripher Nerv Syst. 2016;21(1):5-9.

Symptom presentation is highly varied

In a multicenter study that included 186 individuals with hATTR amyloidosis, 58% (109/186) of patients with hATTR amyloidosis presented with symptoms characterized by both cardiac and neurologic involvement.1,7,a

Frequency of sensory neuropathy, cardiac disease, GI symptoms, and autonomic neuropathy in patients with hereditary ATTR amyloidosis
  1. Baseline clinical characteristics of 186 individuals with hereditary ATTR amyloidosis with 26 different mutations in a multicenter study.7
  2. Echocardiographic abnormalities included increased LV wall thickness, granular sparkling of ventricular myocardium, increased thickness of atrioventricular valves or interatrial septum, or pericardial effusion.7
  3. Electrocardiographic abnormalities included advanced A-V block or intraventricular conduction disturbances.7
LV=left ventricle.

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 premature death in 4.7 years, with a reduced survival of 3.4 years for patients presenting with cardiomyopathy.12-14,d

Due to the variability of the disease, progression of symptoms can also be considerably different from patient to patient.9

dMedian survival following diagnosis.

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  1. Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
  2. Hanna M. Curr Heart Fail Rep. 2014;11(1):50-57.
  3. Mohty D, Damy T, Cosnay P, et al. Arch Cardiovasc Dis. 2013;106(10):528-540.
  4. Shin SC, Robinson-Papp J. Mt Sinai J Med. 2012;79(6):733-748.
  5. Damy T, Judge DP, Kristen AV, et al. J Cardiovasc Transl Res. 2015;8(2):117-127.
  6. Hawkins PN, Ando Y, Dispenzeri A, et al. Ann Med. 2015;47(8):625-638.
  7. Rapezzi C, Quarta CC, Obici L, et al. Eur Heart J. 2013;34(7):520-528.
  8. Adams D, Gonzalez-Duarte A, O’Riordan W, et al., In: The XVth International Symposium on Amyloidosis. Uppsala, Sweden: ISA International Society of Amyloidosis; July 3-7, 2016. PA 82.
  9. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  10. Adams D, Coelho T, Obici L, et al. Neurology. 2015;85(8):675-682.
  11. Adams D, Suhr OB, Hund E, et al. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.
  12. Gertz MA, Kyle RA, Thibodeau SN. Mayo Clin Proc. 1992;67(5):428-440.
  13. Swiecicki PL, Zhen DB, Mauermann ML, et al. Amyloid. 2015;22(2):123-131.
  14. Sattianayagam PT, Hahn AF, Whelan CJ, et al. Eur Heart J. 2012;33(9):1120-1127.
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