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Diagnosis

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Title

A timely diagnosis is critical
for early intervention1

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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

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Physician insights

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

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

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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 stenosis5,8-10

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

  • Chronic inflammatory demyelinating polyneuropathy (CIDP)1,6

  • Amyotrophic lateral sclerosis (ALS)11

  • Diabetic polyneuropathy5,6

  • Idiopathic polyneuropathy6

  • Charcot-Marie-Tooth (CMT) disease6

  • Alcoholic neuropathy5

  • Hypertensive heart disease12

  • Hypertrophic cardiomyopathy12

  • Fabry disease5

  • 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

  • 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 diagnosis5,16,b

To establish the presence of amyloid:

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

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

To confirm a TTR mutation:

  • Genetic testing

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Alnylam-Act

Alnylam Act®—Genetic Testing and Counseling Program

Alnylam Act® offers third-party genetic screening and counseling 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 mutation 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 payers, including government payers, are billed for this program

Order a genetic test »
aNot a comprehensive list of diagnostic tools.
bIf normal light chain assays and grade 2/3 cardiac uptake or an H/CL ratio of >1.5.
99mTc-DPD=technetium-99m-3,3-diphosphono-1,2-propanodicarboxylic acid; 99mTc-PYP=technetium-99m-pyrophosphate.
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References

References:

  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. Hawkins PN, Ando Y, Dispenzeri A, et al. Ann Med. 2015;47(8):625-638.
  5. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  6. Adams D, Suhr OB, Hund E, et al. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.
  7. Rowczenio DM, Noor I, Gillmore JD, et al. Hum Mutat. 2014;35(9):E2403-E2412.
  8. Sperry BW, Reyes BA, Ikram A, et al. J Am Coll Cardiol. 2018;72(17):2040-2050.
  9. Carr AS, Shah S, Choi D, et al. J Neuromusc Dis. 2019. doi:10.3233/JND-170348.
  10. Adams D, Koike H, Slama M, et al. Nat Rev Neurol. 2019:15(7):387-404.
  11. Goyal NA, Mozaffar T. Neurol Genet. 2015;1:e18.
  12. Ruberg FL, Berk JL. Circulation. 2012;126(10):1286-1300.
  13. Shin SC, Robinson-Papp J. Mt Sinai J Med. 2012;79(6):733-748.
  14. Cortese A, Vegezzi E, Lozza A, et al. J Neurol Neurosurg Psychiatry. 2017;88(5):457-458.
  15. Kapoor M, Rossor AM, Jaunmuktane Z, et al. Pract Neurol. 2018;0:1-9. doi:10.1136/practneurol-2018-002098.
  16. Gertz MA. Am J Manag Care. 2017;23(suppl 7):S107-S112.