Explore the expert consensus and clinical guideline recommendations for
diagnosing hATTR step by step below2-9

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Tap the "i" icons for additional information

Diagnostic tool to identify patients with clinical or imaging suspicion for hATTR presenting with polyneuropathy and/or cardiomyopathy.

POLYNEUROPATHY2-5
CARDIOMYOPATHY2,6
POLYNEUROPATHY2-5

Neurological evaluation in amyloidosis

tool tip open iconExpert consensus and clinical guidelines recommend performing a neurologic evaluation when hATTR-PN is suspected.2-5
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Sensory symptoms
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Motor loss
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Autonomic dysfunction
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Physical examination

tool tip open iconIt is recommended to physically examine your patient for polyneuropathy. Consider using tools like the polyneuropathy disability (PND) or familial amyloid polyneuropathy (FAP) scores to help identify the impact of polyneuropathy.2-5
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Confirmatory testing (EMG/NCS)*

tool tip open iconIt is recommended to confirm polyneuropathy with EMG and NCS testing.2-5
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CARDIOMYOPATHY2,6

Monoclonal light-chain testing

tool tip open iconMonoclonal protein screening should be performed to rule out light-chain cardiac amyloidosis (AL-CM) with serum free light chain (sFLC), serum immunofixation electrophoresis (SIFE), or urine immunofixation electrophoresis (UIFE).2

CONGO RED STAINING10

Bright light

Polarized light

Fluorescence microscopy

AMYLOID TYPING10

TTR immunohistochemistry

Kollmer J, Hund E, Hornung B, et al. In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography. Brain. 2015, 138(3), 549-562, by permission of Oxford University Press.

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Positive

tool tip open iconAL-CM likely

Expert consensus recommends ruling out amyloid light chain. If amyloid light chain is detected, it is recommended to refer the patient to a hematologist.2,6

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Negative
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Cardiac scintigraphy Grade 2/3 uptake

tool tip open iconIf negative for amyloid light chain, it is recommended to evaluate scintigraphy for Grade 2/3 cardiac uptake of Tc-99m-PYP.2,4
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PATIENT WITHOUT CARDIAC TTR AMYLOID11

No cardiac uptake of tracer (Grade 0)

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PATIENT WITH CARDIAC TTR AMYLOID11

Positive cardiac uptake of tracer (Grade 2)

Hutt DF, Quigley AM, Page J, et al. Utility and limitations of 3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in systemic amyloidosis. Eur Heart J Cardiovasc Imaging. 2014;15(11):1289-1298, by permission of Oxford University Press.

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Positive
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Negative
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ATTR-CM
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Cardiac amyloidosis unlikely†

Genetic testing

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Expert consensus and clinical guidelines recommend genetic testing for all patients with ATTR to confirm hATTR.2-9

TTR mutations image

hATTR

The 3 most common TTR mutations in North America are V30M, T60A, and V122I2

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hATTR
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ATTRwt
Download the expert consensus recommendation for diagnosing hATTR

*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

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Patients with ATTR can receive a genetic test from PreventionGenetics

Testing can help you determine if your patient has hATTR2

Learn to
manage hATTR

ATTR, transthyretin-mediated amyloidosis; ATTR-CM, cardiomyopathy of transthyretin-mediated amyloidosis; ATTRwt, wild-type transthyretin-mediated amyloidosis; EMG, electromyography; hATTR-PN, polyneuropathy of hereditary transthyretin-mediated amyloidosis; NCS, nerve conduction study; Tc-99m-PYP, technetium-99m pyrophosphate; TTR, transthyretin.