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Timely Diagnosis
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Timely Diagnosis
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Diagnosis

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timely-diagnosis
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Title

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

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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 help 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 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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Download the hATTR Amyloidosis Diagnostic Algorithm
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Alnylam-Act

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
Order a genetic test »
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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Resources for your patients
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Patient Resources

Intro to hATTR Amyloidosis
A Closer Look at hATTR Amyloidosis
Patient Symptom Tracker

Family Resources

An Overview of Genetic Counseling and Testing
Family Discussion Guide
Family Health Tree

Information and Support Groups

Patient Information and Resources
Amyloidosis Support Groups
Amyloidosis Foundation
Amyloidosis Research Consortium
Cece's Story: Finding Answers
The Importance of Genetic Testing
Inheritance of hATTR Amyloidosis
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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. 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.