hATTR amyloidosis: a life-threatening, multisystem disease that causes significant burden1,2
hATTR amyloidosis is a multisystem disease which primarily causes symptoms of polyneuropathy (sensory-motor neuropathy and autonomic neuropathy) and cardiac manifestations3,4
Because amyloids are deposited at multiple sites in the body, including the nerves, heart, and gastrointestinal tract, patients with hereditary transthyretin-mediated (hATTR) amyloidosis can present with a range of sensory and motor, autonomic, and cardiac symptoms.3-5
- Pain, tingling
- Altered sensation
- Bilateral carpal tunnel syndrome
- Difficulty walking
- Orthostatic hypotension
- Diarrhea, constipation, nausea and vomiting
- Unintentional weight loss
- Conduction abnormalities
- Heart failure
- Vitreous opacification
- Abnormal conjunctival vessels
- Papillary abnormalities
- Renal failure
- Progressive dementia
- Spastic paresis
- Stroke-like episodes
- Rapid symptom progression
- Family history of the disease or hATTR amyloidosis symptoms
- Failure to respond to immunomodulatory treatment
- Intolerance of commonly used cardiovascular medications
Many patients present with multisystem dysfunction3
Patients can present with a range of sensory, motor, autonomic, and cardiac symptoms3
Phenotype by mutation10,a,b
- aNot representative of all possible TTR gene mutations.
- bData collected by the THAOS registry.
- hTHAOS=Transthyretin-Associated Amyloidosis Outcomes Survey.
Progression of polyneuropathy leads to significant disability2,3
Symptoms of hATTR amyloidosis can progress quickly, leading to significant disability2,3
Although every patient is different, the progression of length-dependent
sensory-motor neuropathy may follow the same general course.
FAP stage and PND score can be used to assess polyneuropathy progression in your patients.
Select FAP or PND below to learn more about each scoring system
Clinical staging system as described by Coutinho et al, according to sensory and motor neuropathy progression2
No symptoms of sensory or motor neuropathy
Unimpaired ambulation; mostly mild sensory, motor, and autonomic neuropathy in the lower limbs
Assistance with ambulation required; mostly moderate impairment progression to the lower limbs, upper limbs, and trunk
Wheelchair-bound or bedridden; severe sensory, motor, and autonomic involvement of all limbs
Modified PND scoring system first described by Yamamoto et al, to assess the polyneuropathy in patients with hATTR amyloidosis11
No symptoms of neuropathy
Sensory disturbances but preserved walking capability
Impaired walking capacity but ability to walk without a stick or crutches
A: Walking with the help of one stick or crutch
Confined to a wheelchair or bedridden
Symptoms of hATTR amyloidosis can negatively impact the quality of a patient❜s life
Decline in function2,6
- Inability to walk unaided
- Wheelchair-bound or bedridden
- Increased risk of hospitalization
Impact on daily life12-15
- Inability to work
- Pain/discomfort performing usual activities
- Increased dependence on caregiver(s)
- Interference with social activities
- Anxiety and depression
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the red-flag symptoms of hATTR amyloidosis.
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- Swiecicki PL, Zhen DB, Mauermann ML, et al. Amyloid. 2015;22(2):123-131.
- Coutinho P, Martins da Silva A, Lopes Lima JL, et al: Excerpta Medica; 1980:88-98.
- Ando Y, Coelho T, Berk JL, et al. Orphanet J Rare Dis. 2013;8:31.
- Gertz MA. Am J Manag Care. 2017;23(Suppl 7):S107-S112.
- Conceição I, González-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
- Dharmarajan K, Maurer MS. J Am Geriatr Soc. 2012;60(4):765-774.
- Planté-Bordeneuve V, Gorram F, Salhi F, et al. J Neurol.2017;264(2):268-276.
- Sattianayagam PT, Hahn AF, Whelan CJ, et al. Eur Heart J . 2012;33(9):1120-1127.
- Carvalho A, Rocha A, Lobato L. Liver Transpl. 2015;21(3):282-292.
- Wixner J, Mundayat R, Karayal ON, et al. Orphanet J Rare Dis. 2014;9:61.
- Yamamoto S, Wilczek HE, Nowak G, et al. Am J Transplant. 2007;7(11):2597-2604.
- Vinik EJ, Vinik AI, Paulson JF, et al. J Peripher Nerv Syst. 2014;19:104-119.
- Vinik EJ, Hayes RP, Oglesby A, et al. Diabetes Technol Ther. 2005;7(3):497-508.
- Pruppers MHJ, Merkies ISJ, Faber CG, et al. J Peripher Nerv Syst. 2015;20(3):319-327.
- Berk J, Lin H, Agarwal S, et al. Poster presented at: XVIth International Symposium on Amyloidosis (ISA); March 26-29, 2018; Kumamoto, Japan.
- Lopes A, Fonseca I, Sousa A, et al. Amyloid. 2018;25(1):26-36.
- Obici L, Kuks JB, Buades J, et al. Curr Opin Neurol. 2016;29(suppl 1):S27-S35.