Help accelerate the diagnosis of hATTR amyloidosis

Process for ensuring a timely diagnosis

Due to the rapid natural progression of the disease, patients with hATTR amyloidosis require an early and accurate diagnosis.1-3

1

Raise clinical suspicion

  • Recognize the key red-flag symptoms of hATTR amyloidosis including sensory-motor neuropathy, autonomic neuropathy, and cardiac manifestations
  • Identify a family history of hATTR amyloidosis symptoms
2

Identify the signs through diagnostic toolsa

  • Several types of tests can help identify the signs of hATTR amyloidosis

Select an assessment below to learn more about the diagnostic tools and results

It is also important to remember that the symptoms of hATTR amyloidosis may overlap with those of other diseases. A detailed diagnostic history may help to identify patients with hATTR amyloidosis.

Common misdiagnoses in patients with hATTR amyloidosis2,4,5,9,12-23

Clinical manifestations and/or diagnostic findings Potential diagnoses
Ataxia and foot numbness
  • CIDP
Motor involvement
  • ALS
  • Motor polyradiculoneuropathyMotor polyradiculoneuro- pathy
Pain and tingling with alcohol abuse
  • Alcoholic neuropathy
Upper limb neuropathy
  • Carpal tunnel syndrome
  • Idiopathic polyneuropathy
  • Paraneoplastic neuropathy
  • CIDP
  • Motor neuron diseases
Weakness in feet, ankles, legs
  • Charcot-Marie-Tooth disease
Polyneuropathy with diabetes
  • Diabetic polyneuropathy
Polyneuropathy with evidence of amyloid deposition
  • AL amyloidosis
  • AA amyloidosis
Left ventricular hypertrophy
  • Hypertensive heart disease
  • Hypertrophic cardiomyopathy
  • Fabry disease
  • AL amyloidosis
  • wtATTR amyloidosis
Diastolic dysfunction
Heart failure with preserved ejection fraction

AA=amyloid A; AL=amyloid light chain; ALS=amyotrophic lateral sclerosis; CIDP=chronic inflammatory demyelinating polyneuropathy; wtATTR=wild-type ATTR.

See examples of patients with hATTR amyloidosis you might encounter in your practice.
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3

Options to help confirm a diagnosis5,7,a

Genetic testing
  • Detection of a mutation in the TTR gene
Tissue biopsy
  • e.g., fat pad, heart nerve
Nuclear scintigraphic imaging
  • 99mTc-PYP or 99mTc-DPD

aNot a comprehensive list of diagnostic tools.

99mTc-DPD=technetium-99m-3,3-diphosphono-1,2-propanodicarboxylic acid; 99mTc-PYP=technetium-99mpyrophosphate.

Genetic testing offered through Alnylam Act®

Third-party genetic testing and counseling program offered at no chargeb

Genetic testing and counseling may help to:

  • Identify risk of disease for patients and their family members
  • Shorten the time to diagnosis and prevent misdiagnoses
  • Help patients consider clinical trials
  • Provide information about support resources such as patient advocacy organizations

bWhile 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 receives contact information for healthcare professionals who use this program. Genetic testing is available in the U.S. and Canada. Genetic counseling is only available in the U.S. Healthcare professionals and patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Alnylam product.

References:

  1. Gertz MA. Am J Manag Care. 2017;23(Suppl 7):S107-S112.
  2. Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
  3. Obici L, Kuks JB, Buades J, et al. Curr Opin Neurol. 2016;29(suppl 1):S27-S35.
  4. Shin SC, Robinson-Papp J. Mt Sinai J Med. 2012;79(6):733-748.
  5. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  6. Castro J, Miranda B, Castro I, et al. Clin Neurophysiol. 2016;127(5):2222-2227.
  7. Dharmarajan K, Maurer MS. J Am Geriatr Soc. 2012;60(4):765-774.
  8. Falk RH, Quarta CC. Heart Fail Rev. 2015;20(2):125-131.
  9. Hawkins PN, Ando Y, Dispenzeri A, et al. Ann Med. 2015;47(8):625-638.
  10. Rapezzi C, Quarta CC, Guidalotti PL, et al. JACC Cardiovasc Imaging. 2011;4(6):659-670.
  11. Gillmore JD, Maurer MS, Falk RH, et al. Circulation. 2016:133(24):2404-2412.
  12. Adams D, Suhr OB, Hund E, et al. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.
  13. Goyal NA, Mozaffar T. Neurol Genet. 2015;1:e18.
  14. Zeng L, Alongkronrusmee D, van Rijn RM. J Pain Res. 2017;10:219-228.
  15. Cortese A, Vegezzi E, Lozza A, et al. J Neurol Neurosurg Psychiatry. 2017;88(5):457-458.
  16. Adams D, Lozeron P, Lacroix C. Curr Opin Neurol. 2012;25(5):564-572.
  17. Szigeti K, Lupski JR. Eur J Hum Genet. 2009;17(6):703-710.
  18. Hovaguimian A, Gibbons CH. Curr Pain Headache Rep. 2011;15(3):193-200.
  19. Ruberg FL, Berk JL. Circulation. 2012;126(10):1286-1300.
  20. Rapezzi C, Longhi S, Milandri A, et al. Amyloid. 2012;19(suppl 1):16-21.
  21. Linhart A. In: Mehta A, Beck M, Sunder-Plassmann G (eds). Oxford: Oxford PharmaGenesis; 2006. Chapter 20.
  22. Lalande S, Johnson BD. Drugs Today (Barc). 2008;44(7):503-513.
  23. Kapoor M, Rossor AM, Jaunmuktane Z, et al. Pract Neurol. 2018. 0:1-9. doi:10.1136/practneurol-2018-002098.
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