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Timely Diagnosis
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Timely Diagnosis
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A timely diagnosis is critical
for early intervention1

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Patients with hATTR amyloidosis may not receive a diagnosis until 3 to 6 years after symptom onset, resulting in significant disease progression. When diagnosis is delayed, entire families may be affected. Genetic testing is a key step that can help confirm a diagnosis and provide answers for family members at risk.2-5


Physician insights

Hear from a neurologist and a cardiologist about their professional experiences in diagnosing hATTR amyloidosis.


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


Raise clinical suspicion

  • Inquire about a family history of hATTR amyloidosis symptoms

  • Look for multisystem dysfunction

  • Consider further evaluation of patients with carpal tunnel syndrome, biceps tendon rupture, or spinal stenosis4,6-8

  • Reevaluate previous diagnoses for conditions with similar symptoms, especially for patients who continue to worsen or who do not respond to treatment

  • Chronic inflammatory demyelinating polyneuropathy (CIDP)1,5

  • Amyotrophic lateral sclerosis (ALS)9

  • Diabetic polyneuropathy4,5

  • Idiopathic polyneuropathy5

  • Lumbar spinal stenosis10

  • Charcot-Marie-Tooth (CMT) disease5

  • Alcoholic neuropathy4

  • Hypertensive heart disease11

  • Hypertrophic cardiomyopathy11

  • Fabry disease4

  • Other types of amyloidoses1,4,12-14

Identify the signs through diagnostic tools4,12,a

Several types of assessments are available to help identify the signs of hATTR amyloidosis.

Sensory-motor assessments

  • Electromyography (EMG)

  • Nerve conduction study (NCS)

Autonomic assessments

  • Heart rate deep breathing

  • Tilt table

Cardiac assessments

  • Electrocardiography (ECG)

  • Echocardiography (Echo)

  • Cardiac magnetic resonance imaging (CMRI)

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Establish a diagnosis4,15,a

To establish the presence of amyloid:

  • Nuclear scintigraphic imaging (99mTc-PYP or 99mTc-DPD)

  • Tissue biopsy + Congo Red (e.g., fat pad, heart, nerve)

To confirm a TTR variant:

  • Genetic testing

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Alnylam Act®—Genetic Testing and Counseling Program

Alnylam Act® offers third-party genetic screening and counseling programs for patients who may have hATTR amyloidosis at no charge to patients, physicians, and payers.

Alnylam Act® is available for patients
18 years and older who may be at risk for carrying a genetic variant known to be associated with hATTR amyloidosis.

The Alnylam Act® program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health.

  • While Alnylam provides financial support for this program, tests and services are performed by independent third parties

  • Healthcare professionals must
    confirm that patients meet certain criteria to use the program

  • Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient-identifiable information. Alnylam uses healthcare professional contact information for research and commercial purposes

  • Genetic testing is available in the US and Canada. Genetic counseling is only available in the US

  • Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product

  • No patients, healthcare professionals, or payers, including government payers, are billed for this program

aNot a comprehensive list of diagnostic tools.
99mTc-DPD=technetium-99m-3,3-diphosphono-1,2-propanodicarboxylic acid; 99mTc-PYP=technetium-99m-pyrophosphate.
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  1. Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
  2. Swiecicki PL, Zhen DB, Mauermann ML, et al. Amyloid. 2015;22(2):123-131.
  3. Waddington Cruz M, Schmidt H, Botteman MF, et al. Amyloid. 2017;24(suppl 1):109-110.
  4. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  5. Adams D, Suhr OB, Hund E, et al. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.
  6. Sperry BW, Reyes BA, Ikram A, et al. J Am Coll Cardiol. 2018;72(17):2040-2050.
  7. Carr AS, Shah S, Choi D, et al. J Neuromusc Dis. 2019. doi:10.3233/JND-170348.
  8. Adams D, Koike H, Slama M, et al. Nat Rev Neurol. 2019:15(7):387-404.
  9. Goyal NA, Mozaffar T. Neurol Genet. 2015;1:e18.
  10. Adams D, Ando Y, Beirão JM, et al. J Neurol. 2021;268(6):2109-2122.
  11. Ruberg FL, Berk JL. Circulation. 2012;126(10):1286-1300.
  12. Shin SC, Robinson-Papp J. Mt Sinai J Med. 2012;79(6):733-748.
  13. Cortese A, Vegezzi E, Lozza A, et al. J Neurol Neurosurg Psychiatry. 2017;88(5):457-458.
  14. Kapoor M, Rossor AM, Jaunmuktane Z, et al. Pract Neurol. 2019;19(3):250-258.
  15. Gertz MA. Am J Manag Care. 2017;23(suppl 7):S107-S112.