DEFINING ATTR:

ATTR is an underdiagnosed, progressive, and fatal disease1

MULTISYSTEM MANIFESTATIONS1-3

TTR amyloid deposits accumulate in various parts of the body, including:

Heart

Nerves

Musculoskeletal
system

Gastrointestinal
tract

Other

Delayed diagnosis

Patients with ATTR may be diagnosed an average of ~6 years after symptom onset.4*

Limited survival time

The median survival for patients with untreated ATTR is 2.5 to 5.5 years post-diagnosis.5-8*

*In a targeted literature review, mean time to diagnosis ranged from 1.3 to 7.2 years.

There are two types of ATTR: wild-type and hereditary10

Both wild-type and hereditary ATTR lead to the accumulation of TTR amyloid deposits in multiple organs of the body.

PATIENTS WITH THE V122I VARIANT ARE AT HIGHER RISK OF RAPID hATTR PROGRESSION3,9

The V122I (pV142I) variant primarily affects African American families and is associated with increased morbidity and mortality vs other variants or wtATTR.2,13,17

Prevalence2,13

  • ~4% of African Americans carry the V122I variant, making it the most common hATTR variant in the United States

Median
Survival3,4,18

  • 2.6 years is the median survival time for V122I patients, compared to 5.8 years for patients with other variants, following an hATTR diagnosis

Disease
severity9,17

  • V122I variant is associated with more aggressive disease progression compared to other variants or wtATTR, including higher risk of heart failure and death

Mixed
phenotype19

  • Patients with the V122I variant often present with a mixed phenotype, in which cardiomyopathy may coincide with or follow polyneuropathy

Prevalence of Multisystem Manifestations Among Patients with V122I2,3,20

Cardiac
complications

Sensory
neuropathy

Gastrointestinal
symptoms

Renal
impairment

Motor
neuropathy

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ATTR=transthyretin-mediated amyloidosis; TTR=transthyretin; hATTR=hereditary transthyretin-mediated amyloidosis; wtATTR=wild-type transthyretin-mediated amyloidosis.
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REFERENCES:

  1. Hawkins et al. Ann Med. 2015;47(8):625-638.
  2. Maurer et al. J Am Coll Cardiol. 2016;68(2):161-172.
  3. Kittleson et al. J Am Coll Cardiol. 2023;81(11):1076-1126.
  4. Rozenbaum et al. Cardiol Ther. 2021;10(1):141-159.
  5. aus dem Siepen et al. Clin Res Cardiol. 2018;107(2):158-169.
  6. Givens et al. Aging Health. 2013;9(2):229-235.
  7. Gertz et al. Mayo Clin Proc. 1992;67(5):428-440.
  8. Swiecicki et al. Amyloid. 2015;22(2):123-131.
  9. Kittleson et al. J Am Coll Cardiol. 2020;142(1):e7-e22.
  10. Nativi-Nicolau et al. Heart Fail Rev. 2022;27(3):785-793.
  11. Ruberg et al. J Am Coll Cardiol. 2019;73(22):2872-2891.
  12. Ando et al. Orphanet J Rare Dis. 2013;8:31.
  13. Maurer et al. Circ Heart Fail. 2019;12(9):1-11.
  14. Kourelis et al. Expert Rev Cardiovasc Ther. 2015;13(8):945-961.
  15. Sekijima et al. J Neurol Neurosurg Psychiatry. 2015;86(9):1036-1043.
  16. Coelho et al. Curr Med Res Opin. 2013;29(1):63-76.
  17. Kozlitina et al. J Card Fail. 2022;28(3):403-414.
  18. Lane et al. Circulation. 2019;140(1):16-26.
  19. Grogan et al. HFSA Conference 2019. Philadelphia, USA.
  20. Wixner et al. Orphanet J Rare Dis. 2014;9(61):1-9.