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Hereditary transthyretin-mediated (hATTR) amyloidosis is a multisystem disease with heterogeneous symptom presentation1

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Peripheral sensory-motor neuropathy
(e.g., neuropathic pain, paresthesia, weakness, bilateral carpal tunnel syndrome, difficulty walking)

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Autonomic neuropathy
(e.g., orthostatic hypotension, recurrent
urinary tract infections, sexual dysfunction,
sweating, urinary retention)

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Gastrointestinal manifestations
(e.g., diarrhea, nausea, vomiting,
unintentional weight loss)

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Cardiovascular manifestations
(e.g., arrhythmias, conduction abnormalities,
heart failure)

ONPATTRO® (patisiran) does not treat all of these symptoms.

  • More than 120 different transthyretin (TTR) gene mutations have been identified,
    with predominant symptom presentation varying by genotype2

    The most common mutations in the US are V122I, T60A, and V30M3

  • Some mutations are more common in certain populations, including those of Portuguese, Swedish, Japanese, African, and Irish descent4,5
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References:

  1. Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
  2. Rowczenio DM, Noor I, Gillmore JD, et al. Human Mutat. 2014;35(9):E2403-E2412.
  3. Maurer MS, Hanna M, Grogan M, et al. J AM Coll Cardiol. 2016;68(2):161-172.
  4. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  5. Reilly MM, Staunton H, Harding AE. J Neurol Neurosurg Psych. 1995;59(1):45-49.