hATTR amyloidosis: a rapidly progressive disease that can lead to premature death1-3
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
- The other type of ATTR amyloidosis is wild-type ATTR (wtATTR) amyloidosis. The etiology of wtATTR amyloidosis is unclear, but is presumed to be associated with aging7
TTR TETRAMERSTTR is primarily synthesized in the liver and is secreted as a tetramer.
TTR MONOMERSIn hATTR amyloidosis, the tetramer becomes destabilized, dissociating into monomers.
MISFOLDED TTRTTR monomers misfold and aggregate into amyloid deposits.
AMYLOID DEPOSITSAmyloids are deposited at multiple sites in the body, causing damage that leads to clinical symptoms.
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hATTR amyloidosis affects an estimated 50,000 patients worldwide8
A majority of patients present with a range of 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 in part on their specific mutation.1,9
As the disease progresses, symptoms of hATTR amyloidosis increase in severity and may eventually rob patients of function—and even their lives.1-3
Median survival from the time of diagnosis is 4.7 years3
- Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
- Adams D, Coelho T, Obici L, et al. Neurology. 2015;85(8):675-682.
- Swiecicki PL, Zhen DB, Mauermann ML, et al. Amyloid. 2015;22(2):123-131.
- Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
- Rowczenio DM, Noor I, Gillmore JD, et al. Hum Mutat. 2014;35(9):E2403-E2412.
- Gertz MA. Am J Manag Care. 2017;23(suppl 7):S107-S112.
- Kourelis TV, Gertz MA. Expert Rev Cardiovasc Ther. 2015;13(8):945-961.
- Hawkins PN, Ando Y, Dispenzeri A, et al. Ann Med. 2015;47(8):625-638.
- Coelho T, Maurer MS, Suhr OB. Curr Med Res Opin. 2013;29(1):63-76.