Tap the “i” icons for additional information

Diagnostic tool to identify patients with clinical or imaging suspicion for ATTR presenting with polyneuropathy and/or cardiomyopathy.
POLYNEUROPATHY2-5
CARDIOMYOPATHY2,6

Neurological evaluation in amyloidosis

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

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
arrow icon

Confirmatory testing (EMG/NCS)*

tool tip open iconIt is recommended to confirm polyneuropathy with EMG and NCS testing.2-5
arrow iconarrow icon

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.
arrow icon
arrow icon

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
arrow icon
Negative
arrow icon

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
xray icon

PATIENT WITHOUT CARDIAC TTR AMYLOID11

No cardiac uptake of tracer (Grade 0)

xray icon

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.
arrow icon
Positive
arrow icon
arrow icon
Negative
arrow icon
ATTR-CM
arrow icon
Cardiac amyloidosis unlikely†

Genetic testing

tool tip open icon

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
arrow icon
hATTR
arrow icon
ATTRwt

References: 1. Adams D, Algalarrondo V, Polydefkis M, Sarswat N, Slama MS, Nativi-Nicolau J. Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression. Orphanet J Rare Dis. 2021;16(1):411. 2. Kittleson MM, Ruberg FL, Ambardekar AV, et al; Writing Committee. 2023 ACC Expert Consensus Decision Pathway on comprehensive multidisciplinary care for the patient with cardiac amyloidosis: a report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2023;81(11):1076-1126. 3. Gertz M, Adams D, Ando Y, et al. Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam Pract. 2020;21(1):198. 4. Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2021;268(6):2109-2122. 5. Alcantara M, Mezei MM, Baker SK, et al. Canadian guidelines for hereditary transthyretin amyloidosis polyneuropathy management. Can J Neurol Sci. 2022;49(1):7-18. 6. Heidenreich PA, Bozkurt B, Aguilar D, et al. 2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2022;145(18):e895-e1032. 7. Fine NM, Davis MK, Anderson K, et al. Canadian Cardiovascular Society/Canadian Heart Failure Society joint position statement on the evaluation and management of patients with cardiac amyloidosis. Can J Cardiol. 2020;36(3):322-334. 8. Brito D, Albrecht FC, de Arenaza DP, et al. World Heart Federation consensus on transthyretin amyloidosis cardiomyopathy (ATTR-CM). Glob Heart. 2023;18(1):59. 9. Arbelo E, Protonotarios A, Gimeno JR, et al; ESC Scientific Document Group. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023;44(37):3503-3626. 10. 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. 11. Hutt DF, Quigley A-M, 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.