Explore the expert consensus and clinical guideline recommendations for diagnosing hATTR step by step below2-9
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Diagnostic tool to identify patients with clinical or imaging suspicion for hATTR presenting with polyneuropathy and/or cardiomyopathy.
Neurological evaluation in amyloidosis
Expert consensus and clinical guidelines recommend performing a neurologic evaluation when hATTR-PN is suspected.2-5
Confirmatory testing (EMG/NCS)*
It is recommended to confirm polyneuropathy with EMG and NCS testing.2-5
Cardiac scintigraphy Grade 2/3 uptake
If negative for amyloid light chain, it is recommended to evaluate scintigraphy for Grade 2/3 cardiac uptake of Tc-99m-PYP.2,4
PATIENT WITHOUT CARDIAC TTR AMYLOID10
No cardiac uptake of tracer (Grade 0)
PATIENT WITH CARDIAC TTR AMYLOID10
Positive cardiac uptake of tracer (Grade 2)
*Small-fiber neuropathy is not detected by conventional NCSs; therefore, a skin biopsy may be performed.2
†Consider biopsy if cardiac scintigraphy is negative or equivocal and clinical suspicion is high.2
Expert consensus and clinical guidelines recommend genetic testing for
all patients with ATTR2-9
Patients with ATTR can receive a genetic test from PreventionGenetics
Testing can help you determine if your patient has hATTR2
ATTR, transthyretin-mediated amyloidosis; ATTR-CM, cardiomyopathy of transthyretin-mediated amyloidosis; ATTRwt, wild-type transthyretin-mediated amyloidosis; EMG, electromyography; NCS, nerve conduction study.