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Diagnosis
Diagnosis
Clinical suspicion index varies between endemic and non-endemic areas(1)
Clinical suspicion index varies between endemic and non-endemic areas1
Early and accurate diagnosis is crucial for effective disease management1
Confirmation of hATTR amyloidosis
"The diagnosis of hATTR should include DNA sequencing, biopsy, and amyloid typing. Following the diagnosis, patients should be followed up at regular intervals to monitor for disease progression1
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References
- Adams D, Ando Y et al., J Neurol. 2021 Jun;268(6):2109-212.
- Gertz M, Adams D et al., BMC Fam Pract. 2020 Sep 23;21(1):198
- Monteiro C, Mesgazardeh JS et al. Predictive model of response to tafamidis in hereditary ATTR polyneuropathy. JCI Insight. 2019 Jun 20;4(12):e126526
- Gertz MA. Hereditary ATTR amyloidosis: burden of illness and diagnostic challenges. Am J Manag Care. 2017;23(suppl 7):S107–S112.
- Amyloidosis Foundation. Understanding the patient voice in hereditary transthyretin-mediated amyloidosis (ATTR amyloidosis). Available at: https://www.amyloidosissupport.org/support_groups/fam_isabell_attr.pdf. Accessed April 2020.
Suspicion index for endemic areas
In endemic areas, hATTR should be suspected in patients presenting with progressive sensory polyneuropathy or autonomic dysfunction, plus at least one red flag symptom suggestive of multisystemic involvement1
Suspicion index for non-endemic areas
In non-endemic areas, hATTR should be considered for patients presenting with idiopathic, axonal polyneuropathy or atypical chronic inflammatory demyelinating polyneuropathy, plus at least one red flag symptom suggestive of multisystemic involvement1
Common cardiac misdiagnoses2
ATTR Transthyretin amyloidosis, GI Gastrointestinal, LV Left ventricle
Common neurologic misdiagnoses2
ATTR Transthyretin amyloidosis, CTS Carpal tunnel syndrome, OH Orthostatic hypotension, SNAP Sensory nerve action potential
Common gastrointestinal misdiagnoses2
ATTR Transthyretin amyloidosis
Patient follow up after diagnosis1
NT-proBNP N-terminal fragment of the pro b-type natriuretic peptide