MYSTERY CASE
DIAGNOSIS CHALLENGE

Hereditary transthyretin-mediated (hATTR) amyloidosis is an autosomal dominant disease caused by a mutation in the transthyretin (TTR) gene that results in misfolded TTR proteins accumulating as amyloid deposits in multiple sites including the nerves, heart, and gastrointestinal tract.1-3 It’s a progressive disease that may eventually rob patients of function—and their lives.1,4,5

Due to the progressive nature of the disease, patients with hATTR amyloidosis require an early and accurate diagnosis.2,6,7 This tool is designed to help you recognize the red-flag symptoms that indicate when an hATTR amyloidosis diagnosis should be considered.

References:

  1. Adams D, Coelho T, Obici L, et al. Neurology. 2015;85(8):675-682.
  2. Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
  3. Shin SC, Robinson-Papp J. Mt Sinai J Med. 2012;79(6):733-748.
  4. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  5. Swiecicki PL, Zhen DB, Mauermann ML, et al. Amyloid. 2015;22(2):123-131.
  6. Adams D, Suhr OB, Hund E, et al. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.
  7. Obici L, Kuks JB, Buades J, et al. Curr Opin Neurol. 2016;29(suppl 1):S27-S35.
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