hATTR amyloidosis: a life-threatening, multisystem disease that causes significant burden1,2
The disease affects multiple organs, resulting in varying symptoms3
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
- Rapid symptom progression
- Family history of the disease or hATTR amyloidosis symptoms
- Failure to respond to immunomodulatory treatment
- Intolerance of commonly used cardiovascular medications
- Vitreous opacification
- Abnormal conjunctival vessels
- Papillary abnormalities
- Renal failure
- Progressive dementia
- Spastic paresis
- Stroke-like episodes
Many patients present with multisystem dysfunction3
Symptom presentation varies by mutation, and patients can present with a range of sensory, motor, autonomic, and cardiac symptoms3
Phenotype varies by mutation6,a,b
- Not representative of all possible TTR gene mutations.
- Data collected by the THAOS registry.
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 progression.2
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 amyloidosis.7
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 a patient’s quality of life
Decline in function2,5
- Inability to walk unaided
- Wheelchair-bound or bedridden
- Increased risk of hospitalization
Impact on daily life8-11
- Inability to work
- Pain/discomfort performing usual activities
- Increased dependence on caregiver(s)
- Interference with social activities
- Anxiety and depression
Take the mystery case diagnosis challengeThis useful tool is designed to help you recognize the red-flag symptoms of hATTR amyloidosis. Start the challenge
Are symptoms and family history leading you to suspect hATTR amyloidosis?Your patient may be eligible for Alnylam Act®, a genetic testing and counseling program available at no charge.
Download application now
- 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.
- 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.
- 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.
- Gertz MA. Am J Manag Care. 2017;23(suppl 7):S107-S112.
- Obici L, Kuks JB, Buades J, et al. Curr Opin Neurol. 2016;29(suppl 1):S27-S35.