Doctor jumping out of his chair next to a large flaming heart

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Because this is where 
ATTR-CM is Headed

If your patient is experiencing HFpEF or other heart disease symptoms, ATTR-CM could be an underlying cause.1,2 ATTR-CM is a progressive, debilitating, and fatal disease with a median survival of 2.6 to 5.8 years following diagnosis for untreated patients.3-7 Early detection and identification are critical to slow disease progression.2,8

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Defining ATTR

Transthyretin-mediated amyloidosis (ATTR) is an underdiagnosed disease that causes a range of multisystem manifestations due to TTR amyloid deposits that accumulate in various parts of the body, including the heart, nerves, musculoskeletal system, and gastrointestinal tract.1-3

There are two types of ATTR9

Wild-type ATTR (wtATTR)

wtATTR is the most common form of ATTR. While the etiology is unknown, it is presumed to be due to aging.9-11

  • The average age of onset is >60 years9-11
  • Typically manifests as cardiomyopathy, causing heart failure for ~90% of patients1,12,13
  • Can also present as musculoskeletal or neurologic symptoms1,12,13

Hereditary ATTR (hATTR)

hATTR is caused by an inherited genetic variant.1,3,13,14

  • There are over 120 gene variants associated with hATTR (with variable penetrance)1,3,13,14
  • Depending on the variant, age of onset can be 30+ years old10
  • In the United States, hATTR is often associated with these genetic variants:
    • V122I (V142I): Most common genetic variant in the United States, more commonly affects persons of West African descent. ~4% of African Americans in the US carry the V122I (V142I) variant1,12
    • T60A: Commonly affects persons of Irish descent1,15
    • V30M: Commonly affects persons of Japanese, Portuguese, and Swedish descent1,8,16-19
  • hATTR typically presents as mixed phenotype, including polyneuropathy and cardiomyopathy manifestations10,19

Symptom presentation in hATTR by variant20*†

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Understand the pathophysiology Arrow right

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*Not representative of all possible TTR gene variants.

†Data collected by the Transthyretin Amyloidosis Outcomes Survey (THAOS) registry.

ATTR-CM=cardiomyopathy of transthyretin-mediated amyloidosis; HFpEF=heart failure with preserved ejection fraction; TTR=transthyretin.

References:

  1. Maurer MS, et al. J Am Coll Cardiol. 2016;68(2):161-172.
  2. Kittleson MM, et al. J Am Coll Cardiol. 2023;81(11):1076-1126.
  3. Hawkins PN, et al. Ann Med. 2015;47(8):625–638.
  4. Aus dem Siepen, et al. Clin Res Cardiol. 2018;107(2):158-169.
  5. Gertz, et al. Mayo Clin Proc. 1992;67(5):428-440.
  6. Swiecicki, et al. Amyloid. 2015;22(2):123-131.
  7. Givens, et al. Aging Health. 2013;9(2):229-235.
  8. Kittleson MM, et al. Circulation. 2020;142(1):e7-e22.
  9. Nativi-Nicolau JN, et al. Heart Fail Rev. 2022;27(3):785-793.
  10. Ruberg FL, et al. J Am Coll Cardiol. 2019;73(22):2872-2891.
  11. Ando Y, et al. Orphanet J Rare Dis. 2013;8:31.
  12. Maurer MS, et al. Circ Heart Fail. 2019;12(9):e006075.
  13. Kourelis TV, et al. Expert Rev Cardiovasc Ther. 2015;13(8):945-961.
  14. Sekijima Y. J Neurol Neurosurg Psychiatry. 2015;86(9):1036-1043.
  15. Reilly, MM, et al. J Neurol Neurosurg Psychiatry. 1995;59:45-49.
  16. Parman Y, et al. Curr Opin Neurol. 2016;29(1):S3-S13.
  17. Sekijima Y. Orphanet J Rare Dis. 2018;13:6.
  18. Coelho T, et al. Curr Med Res Opin. 2013;29(1):63-76.
  19. Cruz MW, et al. Arq Neuropsiquiatr. 2019;77(2):96-100.
  20. Wixner J, et al. Orphanet J Rare Dis. 2014;9:61.