Signos y síntomas
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Esta no es una lista completa de los síntomas asociados con la ATTRh.
La experiencia de cada paciente es diferente y puede no presentar todos estos síntomas de manera simultánea o conjunta. Los síntomas de la ATTR pueden empeorar con el tiempo16
*Un fenotipo mixto combina características tanto de miocardiopatía como de polineuropatía17
†Los síntomas gastrointestinales a menudo se consideran síntomas autonómicos10
ATTR: amiloidosis mediada por transtiretina; GDMT: tratamiento médico dirigido por guías; GI: gastrointestinal; ATTRh: amiloidosis hereditaria mediada por transtiretina; HF: insuficiencia cardíaca; HFpEF: insuficiencia cardíaca con fracción de eyección preservada.
• Pérdida de peso
• Disfunción eréctil
• Hipotensión ortostática/intolerancia a medicamentos para la presión arterial
• Debilidad muscular, dificultad para caminar y caídas
• Fibrilación auricular
• Anomalías de conducción
• Estenosis lumbar
• Síndrome del túnel carpiano
• Entumecimiento y dolor
• Alteración de la sensibilidad termoalgésica
• Alteración de las sensaciones de tacto fino, vibración y propiocepción
• Dificultad para caminar y debilidad
• Alteración de los movimientos finos de las manos
Síntomas de neuropatía autonómica13,23,24
Los síntomas de neuropatía autonómica son comunes y pueden presentarse en etapas tempranas de la enfermedad
ASO: oligonucleótido antisentido; ATTRh: amiloidosis hereditaria mediada por transtiretina (ATTRh); ATTRh-PN: polineuropatía por amiloidosis hereditaria mediada por transtiretina; EAs: eventos adversos, IV: intravenosa; SC: subcutánea; siRNA: ácido ribonucleico de interferencia corta
1.Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013 Feb 20;8:31; 2. Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2021 Jun;268(6):2109-2122; 3. Bazell C, Alston M, Kumar N, Caudle J, Brannagan T, Urey M, et al. Descriptive characteristics of patients diagnosed with transthyretin amyloidosis (ATTR) in the Medicare fee-for-service and commercial populations [poster]. Presented at: International Symposium of Amyloidosis; May 26–30, 2024; Rochester, MN, USA. Poster #518. Available from: https://www.morressier.com/o/event/652e68edc5482a001283848b/article/65f9bf8be6f73964e1d4f804 (accessed November 6, 2025); 4. Pinto MV, Pinto LF, Dias M, Rosa RS, Mundayat R, Pedrosa RC, et al. Late-onset hereditary ATTR V30M amyloidosis with polyneuropathy: Characterization of Brazilian subjects from the THAOS registry. J Neurol Sci. 2019 Aug 15;403:1-6; 5. Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011 Dec;10(12):1086-97; 6. Sattianayagam PT, Hahn AF, Whelan CJ, Gibbs SD, Pinney JH, Stangou AJ, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J. 2012 May;33(9):1120-7; 7. Swiecicki PL, Zhen DB, Mauermann ML, Kyle RA, Zeldenrust SR, Grogan M, Dispenzieri A, Gertz MA. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015;22(2):123-31; 8. Waddington-Cruz M, Wixner J, Amass L, Kiszko J, Chapman D, Ando Y; THAOS investigators. Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Neurol Ther. 2021 Dec;10(2):753-766; 9. Conceição I, González‑Duarte A, Obici L, Schmidt H‑J, Simoneau D, Ong ML, Amass L. “Red‑flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5–9; 10. Gertz M, Adams D, Ando Y, Beirão JM, Bokhari S, Coelho T, et al. Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam Pract. 2020 Sep 23;21(1):198; 11. National Institute for Health and Care Excellence (NICE). Highly specialised technology evaluation: inotersen for treating hereditary transthyretin-related amyloidosis [ID1242] [Internet]. London: NICE; 2018 [cited 2025 Jul 23]. Available from: https://www.nice.org.uk/guidance/hst9; 12. 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 May;27(3):785-793; 13. 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 Sep;29(Suppl 1):1-9; 14. Rubin J, Alvarez J, Teruya S, Castano A, Lehman RA, Weidenbaum M, 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 Dec;24(4):226-230; 15. Kittleson MM, Ruberg FL, Ambardekar AV, Brannagan TH, Cheng RK, Clarke JO, et al. 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 Mar 21;81(11):1076-1126; 16. 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 Oct 3;16(1):411; 17. Brito D, Albrecht FC, de Arenaza DP, Bart N, Better N, Carvajal-Juarez I, et al. World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM). Glob Heart. 2023 Oct 26;18(1):59; 18. Gertz MA. Hereditary ATTR amyloidosis: burden of illness and diagnostic challenges. Am J Manag Care. 2017 Jun;23(7 Suppl):S107-S112; 19. González-Moreno J, Dispenzieri A, Grogan M, Coelho T, Tournev I, Waddington-Cruz M, et al; THAOS investigators. Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey. Cardiol Ther. 2024 Mar;13(1):117-135; 20. Obici L, Suhr OB. Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis. Clin Auton Res. 2019 Sep;29(Suppl 1):55-63; 21. Karam C, Mauermann ML, Gonzalez-Duarte A, Kaku MC, Ajroud-Driss S, Brannagan TH 3rd, et al. Diagnosis and treatment of hereditary transthyretin amyloidosis with polyneuropathy in the United States: Recommendations from a panel of experts. Muscle Nerve. 2024 Mar;69(3):273-287; 22. Lin X, Yarlas A, Vera-Llonch M, Baranwal N, Biber J, Brown D, et al. Rate of neuropathic
progression in hereditary transthyretin amyloidosis with polyneuropathy and other peripheral neuropathies: a systematic review and meta-analysis. BMC Neurol. 2021 Feb 12;21(1):70; 23. Kapoor M, Rossor AM, Laura M, Reilly MM. Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis. J Neuromuscul Dis. 2019;6(2):189-199; 24. Sekijima Y, Ueda M, Koike H, Misawa S, Ishii T, Ando Y. Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis. 2018 Jan 17;13(1):6. Erratum in: Orphanet J Rare Dis. 2019 May 21;14(1):111; 25. Barroso FA, Coelho T, Dispenzieri A, Conceição I, Waddington-Cruz M, Wixner J, et al; THAOS investigators. Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS). Amyloid. 2022 Sep;29(3):175-183.
AR-10305 03/2026