

Diagnosis

A timely diagnosis is critical
for early intervention1
Diagnosing hereditary transthyretin-mediated (hATTR) amyloidosis can sometimes take 3 to 6 years from symptom onset.2,3 By the time patients receive a diagnosis, the median survival is 4.7 years.4 Genetic testing is a key step in diagnosing hATTR amyloidosis and potentially providing answers for family members at risk. When diagnosis is delayed, entire families may be affected.5-7
Physician insights
Hear from a neurologist and a cardiologist about their professional experiences in diagnosing hATTR amyloidosis.


Consider this 3-step process to ensure an accurate diagnosis.


Raise clinical suspicion
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Inquire about a family history of hATTR amyloidosis symptoms
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Look for multisystem dysfunction
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Consider further evaluation of patients with carpal tunnel syndrome, biceps tendon rupture, or spinal stenosis5,8-10
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Reevaluate previous diagnoses, especially for patients who continue to worsen or who do not respond to treatment
Some common misdiagnoses include
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Chronic inflammatory demyelinating polyneuropathy (CIDP)1,6
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Amyotrophic lateral sclerosis (ALS)11
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Diabetic polyneuropathy5,6
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Idiopathic polyneuropathy6
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Charcot-Marie-Tooth (CMT) disease6
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Alcoholic neuropathy5
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Hypertensive heart disease12
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Hypertrophic cardiomyopathy12
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Fabry disease5
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Other types of amyloidoses1,5,13-15


Identify the signs through diagnostic tools5,13,a
Several types of assessments are available to help identify the signs of hATTR amyloidosis.
Sensory-motor assessments
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Electromyography (EMG)
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Nerve conduction study (NCS)
Autonomic assessments
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Heart rate deep breathing
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Tilt table
Cardiac assessments
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Electrocardiography (ECG)
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Echocardiography (Echo)
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Cardiac magnetic resonance imaging (CMRI)


Establish a diagnosis5,16,b
To establish the presence of amyloid:
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Nuclear scintigraphic imaging (99mTc-PYP or 99mTc-DPD)
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Tissue biopsy (e.g., fat pad, heart, nerve)
To confirm a TTR mutation:
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Genetic testing
References:
- Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
- Swiecicki PL, Zhen DB, Mauermann ML, et al. Amyloid. 2015;22(2):123-131.
- Waddington Cruz M, Schmidt H, Botteman MF, et al. Amyloid. 2017;24(suppl 1):109-110.
- Hawkins PN, Ando Y, Dispenzeri A, et al. Ann Med. 2015;47(8):625-638.
- Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
- Adams D, Suhr OB, Hund E, et al. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.
- Rowczenio DM, Noor I, Gillmore JD, et al. Hum Mutat. 2014;35(9):E2403-E2412.
- Sperry BW, Reyes BA, Ikram A, et al. J Am Coll Cardiol. 2018;72(17):2040-2050.
- Carr AS, Shah S, Choi D, et al. J Neuromusc Dis. 2019. doi:10.3233/JND-170348.
- Adams D, Koike H, Slama M, et al. Nat Rev Neurol. 2019:15(7):387-404.
- Goyal NA, Mozaffar T. Neurol Genet. 2015;1:e18.
- Ruberg FL, Berk JL. Circulation. 2012;126(10):1286-1300.
- Shin SC, Robinson-Papp J. Mt Sinai J Med. 2012;79(6):733-748.
- Cortese A, Vegezzi E, Lozza A, et al. J Neurol Neurosurg Psychiatry. 2017;88(5):457-458.
- Kapoor M, Rossor AM, Jaunmuktane Z, et al. Pract Neurol. 2018;0:1-9. doi:10.1136/practneurol-2018-002098.
- Gertz MA. Am J Manag Care. 2017;23(suppl 7):S107-S112.