DISEASE MANIFESTATIONS

Up to 80% of patients with hATTR, depending on the gene variant, have mixed phenotype with polyneuropathy and cardiomyopathy*1

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Clinical manifestations are variable depending on specific mutation, patient population, and age2

WAINUA is not indicated for the treatment of cardiomyopathy symptoms.

Peripheral Neuropathy ManifestationPeripheral Neuropathy Manifestation - Active

Peripheral neuropathy3-6

  • Rapidly progressive, painful neuropathy in hands and feet
  • Muscle weakness, difficulty walking, and balance disorder
Autonomic Neuropathy ManifestationAutonomic Neuropathy Manifestation - Active

Autonomic neuropathy3,6,9

  • GI symptoms of dysautonomia: constipation/diarrhea3
  • Orthostatic hypotension3
  • Sexual dysfunction9
Gastrointestinal ManifestationGastrointestinal Manifestation – Active

Gastrointestinal†3,4,6,9

Gastro-intestinal†3,4,6,9

  • Weight loss
  • Early satiety
Musculoskeletal ManifestationMusculoskeletal Manifestation - Active

Musculoskeletal4-6,10

Musculo-skeletal4-6,10

  • Carpal tunnel syndrome4-6
  • Knee or hip surgery5,10
  • Lumbar spinal stenosis5,10
Cardiac ManifestationCardiac Manifestation - Active

Cardiac3,6,11

  • Heart failure (included HFpEF)
  • Poor tolerance to standard HF GDMT
  • Atrial fibrillation
  • Conduction abnormalities
  • Peripheral edema
Nephropathy ManifestationNephropathy Manifestation - Active

Nephropathy3

  • Proteinuria
  • Renal failure
  • Rapidly progressive, painful neuropathy in hands and feet
  • Muscle weakness, difficulty walking, and balance disorder
  • GI symptoms of dysautonomia: constipation/​diarrhea3
  • Orthostatic hypotension3
  • Sexual dysfunction9
  • Weight loss
  • Early satiety
  • Carpal tunnel syndrome4-6
  • Knee or hip surgery5,10
  • Lumbar spinal stenosis5,10
  • Heart failure
    (included HFpEF)
  • Poor tolerance to standard HF GDMT
  • Atrial fibrillation
  • Conduction abnormalities
  • Peripheral edema
  • Proteinuria
  • Renal failure
Peripheral Neuropathy Manifestation in The BodyAutonomic Neuropathy Manifestation in The BodyGastrointestinal Manifestation in The BodyMusculoskeletal Manifestation in The BodyCardiac Manifestation in The BodyNephropathy Manifestation in The Body

  1. This is not a complete list of symptoms associated with hATTR. Each patient’s experience is different and may not exhibit all these symptoms collectively or at the same time. ATTR symptoms may worsen over time.7

  2. *A mixed phenotype combines features of both cardiomyopathy and polyneuropathy.8

  3. †Gastrointestinal symptoms are often considered autonomic symptoms.3

Evaluate the signs and symptoms of hATTR

How to diagnose

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FOOTNOTES AND ABBREVIATIONS

ATTR, transthyretin-mediated amyloidosis; GDMT, guideline-directed medical therapy; GI, gastrointestinal; hATTR, hereditary transthyretin-mediated amyloidosis; HF, heart failure; HFpEF, heart failure with preserved ejection fraction.

REFERENCES

  1. 1. Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011;10(12):1086-1097.
  2. 2. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
  3. 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. 4. National Institute for Health and Care Excellence. Highly specialised technology evaluation: inotersen for treating hereditary transthyretin-related amyloidosis [ID1242]. 2018.
  5. 5. Nativi-Nicolau JN, Karam C, Khella S, Maurer MS. Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness. Heart Fail Rev. 2022;27(3):785-793.
  6. 6. Conceição I, González-Duarte A, Obici L, et al. "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5-9.
  7. 7. 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.
  8. 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. 9. Gonzalez-Duarte A, Valdés-Ferrer SI, Cantú-Brito C. Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review. Clin Auton Res. 2019;29(suppl 1):1-9.
  10. 10. Rubin J, Alvarez J, Teruya S, et al. Hip and knee arthroplasty are common among patients with transthyretin cardiac amyloidosis, occurring years before cardiac amyloid diagnosis: can we identify affected patients earlier? Amyloid. 2017;24(4):226-230.
  11. 11. 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.