Hereditary ATTR amyloidosis: a progressive and life-threatening familial disease1-3

What is 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 fibrils in multiple sites including the nerves, heart, and GI tract.2,4,5

Formation of amyloid fibrils2,4-6
TTR mutation leads to protein misfolding and formation of amyloid fibrils that are deposited at multiple sites in the body
TTR=transthyretin.

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hATTR amyloidosis affects an estimated 50,000 patients worldwide5

In the disease continuum of hATTR amyloidosis, some patients present primarily with polyneuropathy symptoms, historically known as familial amyloidotic polyneuropathy (FAP), and other patients present primarily with cardiomyopathy symptoms, historically known as familial amyloidotic cardiomyopathy (FAC). A substantial proportion of patients present with a mixed phenotype that includes sensory and motor, autonomic, and cardiac symptoms.5,7-9

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, with some presenting as early as their 20s.7,10

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

hATTR amyloidosis can lead to significant morbidity, disability, and mortality.1-3,11

References:

  1. Adams D, Coelho T, Obici L, et al. Neurology. 2015;85(8):675-682.
  2. Hanna M. Curr Heart Fail Rep. 2014;11(1):50-57.
  3. Mohty D, Damy T, Cosnay P, et al. Arch Cardiovasc Dis. 2013;106(10):528-540.
  4. Damy T, Judge DP, Kristen AV, et al. J Cardiovasc Transl Res. 2015;8(2):117-127.
  5. Hawkins PN, Ando Y, Dispenzeri A, et al. Ann Med. 2015;47(8):625-638.
  6. Sekijima Y. J Neurol Neurosurg Psychiatry. 2015;86(9):1036-1043.
  7. Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
  8. Rapezzi C, Quarta CC, Obici L, et al. Eur Heart J. 2013;34(7):520-528.
  9. Adams D, Gonzalez-Duarte A, O’Riordan W, et al., In: The XVth International Symposium on Amyloidosis. Uppsala, Sweden: ISA International Society of Amyloidosis; July 3-7, 2016. PA 82.
  10. Coelho T, Maurer MS, Suhr OB. Curr Med Res Opin. 2013;29(1):63-76.
  11. Castaño A, Drachman BM, Judge D, et al. Heart Fail Rev. 2015;20(2):163-178.
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