hATTR amyloidosis: a progressive and life-threatening familial disease1-3

What is hereditary transthyretin-mediated (hATTR) amyloidosis?

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 (GI) tract.1,2,4

  • More than 120 different TTR gene mutations have been identified5,6
    • - The most common mutations in the United States are V122I, T60A, and V30M
Formation of amyloid deposits1,6
TTR mutation leads to protein misfolding and formation of amyloid deposits in multiple sites in the body

Access useful infoThere's a range of items available for download on the Resources page, including informative patient profiles, a Red-Flag Symptom tool, and more. Browse resources now

Need information for your patients? Visit The Bridge®   website, a useful resource for patients and caregivers to learn more about hATTR amyloidosis.

hATTR amyloidosis affects an estimated 50,000 patients worldwide7

A majority of patients present across a spectrum that includes sensory and motor, autonomic, and cardiac symptoms.1

The symptom presentation of hATTR amyloidosis is highly varied among patients, even within the same mutation or the same family. In addition to the varied symptom presentation, age of onset varies among patients—with a median age of 39 years; some patients may present earlier or later, depending on their specific mutation.1,8

As the disease progresses, symptoms of hATTR amyloidosis increase in severity and may eventually rob patients of function—and even their lives.1-3

Patients with hATTR amyloidosis have a median survival from the time of diagnosis of 4.7 years

References:

  1. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  2. Adams D, Coelho T, Obici L, et al. Neurology. 2015;85(8):675-682.
  3. Swiecicki PL, Zhen DB, Mauermann ML, et al. Amyloid. 2015;22(2):123-131.
  4. Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
  5. Rowczenio DM, Noor I, Gillmore JD, et al. Hum Mutat. 2014;35(9):E2403-E2412.
  6. Gertz MA. Am J Manag Care. 2017;23(suppl 7):S107-S112.
  7. Hawkins PN, Ando Y, Dispenzeri A, et al. Ann Med. 2015;47(8):625-638.
  8. Coelho T, Maurer MS, Suhr OB. Curr Med Res Opin. 2013;29(1):63-76.
Sign up to receive updates about hereditary ATTR amyloidosis from Alnylam Sign Up