hATTR is rare. Diagnosing and treating it doesn’t have to be.
Suspect hATTR earlier, change a patient’s life.
Hereditary Amyloidosis (hATTR) is an inherited, rapidly progressive, life-threatening, multisystem disease that often goes undiagnosed or misdiagnosed due to variable clinical presentation and non-specific symptoms.1,2
Progressive neuropathy that appears idiopathic could be hATTR, making it crucial to include it in your differential diagnosis.3
Red flags to watch for.
Suspecting hATTR can help you diagnose earlier.
hATTR can present in highly variable ways and may seem idiopathic at first. Recognizing key symptom clusters is essential to suspecting an underlying cause.1,6
Diagnosing hATTR
hATTR is treatable, making early diagnosis and intervention crucial. The sooner you suspect it in your patients, the better you can slow or even
stop its progression.7 Consider the red flags for hATTR when developing your differential diagnosis.1,6 Remember: suspect, diagnose, and test.
Step 1: Suspect
If a patient is presenting with progressive symmetric sensory-motor neuropathy and at least one of the red flags listed, include hATTR in your differential diagnosis. Similarly, if a patient presenting with neuropathic symptoms is unresponsive to treatment for their current diagnosis—or suspected diagnosis—hATTR should be considered.1,3,8
Step 2: Diagnose
To diagnose hATTR, perform peripheral nerve testing (PN testing). Assess sensory and motor skills, as reduced responses in hands and feet can indicate polyneuropathy consistent with hATTR.1,6
Step 3: Test
Confirm a hATTR diagnosis with genetic testing at no charge to patients and HCP available through Alnylam Act.
You may also refer the patient to
a Canadian Amyloidosis Expert for
further testing or support.
Resources are available for your practice. Contact us.
Contact an Alnylam representative to learn more about hATTR, diagnostic resources, and treatment options.
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Conceição I, et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 2016;21:5-9.
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Damy T, et al. Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transtheyretin amyloidosis. J Cardiovasc Transl Res 2015;8(2):117-27.
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Alcantara M, et al. Canadian guidelines for hereditary transthyretin amyloidosis polyneuropathy management. Can J Neurol Sci 2022;49:7-18.
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Adams D, et al. Nat Rev Neurol 2019;15:387-404.
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Adams D. Ther Adv Neurol Disord 2013;6:129-39.
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Hawkins P, et al. Evolving landscape in the management of transthyretin amyloidosis. Ann Med 2015;47:625-38.
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Benson MD, et al. Ther Clin Risk Manag 2020;16:749-58.
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Obici L, et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol 2016;29(suppl 1):S27-S35.