Cardiovascular reflex tests detect autonomic dysfunction in symptomatic and pre-symptomatic subjects with hereditary transthyretin amyloidosis.
Autonomic dysfunction
Cardiovascular reflex tests
Dysautonomia
Familial amyloidotic polyneuropathy
Hereditary transthyretin amyloidosis
Journal
Clinical autonomic research : official journal of the Clinical Autonomic Research Society
ISSN: 1619-1560
Titre abrégé: Clin Auton Res
Pays: Germany
ID NLM: 9106549
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
received:
18
09
2022
accepted:
27
12
2022
pubmed:
11
1
2023
medline:
8
3
2023
entrez:
10
1
2023
Statut:
ppublish
Résumé
Autonomic dysfunction is a distinctive but undervalued feature of hereditary transthyretin amyloidosis (ATTRv). It may predate the onset of polyneuropathy and cardiomyopathy, thereby providing crucial prognostic and therapeutic information. The objective of this study was to assess autonomic function by means of the standardized cardiovascular autonomic reflex tests (CRTs) in a cohort of subjects with genetically proven ATTRv from non-endemic areas who were in the symptomatic and pre-symptomatic stages. All subjects enrolled in this cross-sectional study had genetically proven ATTRv. They underwent the head-up tilt test, Valsalva manoeuvre, deep breathing test, cold face test and handgrip test while under continuous blood pressure and heart rate monitoring. Based on the results of the nerve conduction study, the subjects were divided into two groups: those with polyneuropathy (ATTRv-wPN) and those without polyneuropathy (ATTRv-woPN). Age- and sex-matched healthy controls (HC) were used for comparison. Thirty-seven ATTRv subjects (19 with ATTRv-wPN, 18 with ATTRv-woPN) and 41 HC performed the CRTs. Of these 37 subjects with ATTRv, four (11%) presented neurogenic orthostatic hypotension the during head-up tilt test. Based on the results of the CRTs, autonomic dysfunction characterized by either sympathetic or parasympathetic impairment was detected in 37% and 63% of ATTRv-wPN subjects, respectively. Subjects with ATTRv-woPN presented a significant impairment of autonomic responses to the Valsalva manoeuvre compared to the HC (overshoot p = 0.004; Valsalva ratio p = 0.001). Autonomic dysfunctions are frequent in subjects with ATTRv when investigated by means of standardized CRTs, and are also relevant in the pre-symptomatic stage. Cardiovagal functions are the primary functions affected, among others. This may be crucial in defining the proper diagnostic workout for early diagnosis and improving the likelihood of providing the patient with prompt administration of disease-modifying treatments.
Identifiants
pubmed: 36625973
doi: 10.1007/s10286-022-00921-x
pii: 10.1007/s10286-022-00921-x
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
15-22Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.
Références
Carroll A, Dyck PJ, de Carvalho M et al (2022) Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis. J Neurol Neurosurg Psychiatry 93:668–678. https://doi.org/10.1136/jnnp-2021-327909
doi: 10.1136/jnnp-2021-327909
pubmed: 35256455
Sekijima Y, Wiseman RL, Matteson J et al (2005) The biological and chemical basis for tissue-selective amyloid disease. Cell 121:73–85
doi: 10.1016/j.cell.2005.01.018
pubmed: 15820680
Barroso FA, Coelho T, Dispenzieri A et al (2022) Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS). Amyloid 29:175-183 https://doi.org/10.1080/13506129.2022.2043270
doi: 10.1080/13506129.2022.2043270
pubmed: 35451899
Palma JA, Gonzalez-Duarte A, Kaufmann H (2019) Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management. Clin Auton Res 29:33–44. https://doi.org/10.1007/s10286-019-00623-x
doi: 10.1007/s10286-019-00623-x
pubmed: 31452021
pmcid: 6763509
Algalarrondo V, Antonini T, Théaudin M et al (2016) Cardiac dysautonomia predicts long-term survival in hereditary transthyretin amyloidosis after liver transplantation. JACC Cardiovasc Imaging 9:1432–1441. https://doi.org/10.1016/J.JCMG.2016.07.008
doi: 10.1016/J.JCMG.2016.07.008
pubmed: 27838303
Freeman R, Wieling W, Axelrod FB et al (2011) Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome. Clin Auton Res 21:69–72. https://doi.org/10.1007/s10286-011-0119-5
doi: 10.1007/s10286-011-0119-5
pubmed: 21431947
Gonzalez-Duarte A (2019) Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). Clin Auton Res 29:245–251. https://doi.org/10.1007/s10286-018-0514-2
doi: 10.1007/s10286-018-0514-2
pubmed: 29511897
González-Duarte A, Barroso F, Mundayat R, Shapiro B (2019) Blood pressure and orthostatic hypotension as measures of autonomic dysfunction in patients from the transthyretin amyloidosis outcomes survey (THAOS). Auton Neurosci Basic Clin 222:102590. https://doi.org/10.1016/j.autneu.2019.102590
doi: 10.1016/j.autneu.2019.102590
Wiklund U, Kadkhodaee A, Andersson K et al (2018) Normal scores of deep breathing tests: beware of dysrhythmia in transthyretin amyloidosis. Amyloid 25:54–61. https://doi.org/10.1080/13506129.2018.1434140
doi: 10.1080/13506129.2018.1434140
pubmed: 29394116
Cheshire WP, Freeman R, Gibbons CH et al (2021) Electrodiagnostic assessment of the autonomic nervous system: a consensus statement endorsed by the American Autonomic Society, American Academy of Neurology, and the International Federation of Clinical Neurophysiology. Clin Neurophysiol 132:666–682. https://doi.org/10.1016/J.CLINPH.2020.11.024
doi: 10.1016/J.CLINPH.2020.11.024
pubmed: 33419664
Manganelli F, Fabrizi GM, Luigetti M et al (2020) Hereditary transthyretin amyloidosis overview. Neurol Sci. https://doi.org/10.1007/s10072-020-04889-2
doi: 10.1007/s10072-020-04889-2
pubmed: 33188616
pmcid: 9780126
Ducla-Soares J, Alves MM, Carvalho M et al (1994) Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type. Acta Neurol Scand 90:266–269. https://doi.org/10.1111/j.1600-0404.1994.tb02719.x
doi: 10.1111/j.1600-0404.1994.tb02719.x
pubmed: 7839813
Dong HK, Zeldenrust SR, Low PA, Dyck PJ (2009) Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy. Muscle Nerve 40:363–370. https://doi.org/10.1002/mus.21332
doi: 10.1002/mus.21332
Mathias CJ (2003) Autonomic diseases: clinical features and laboratory evaluation. J Neurol Neurosurg Psychiatry 74:iii31. https://doi.org/10.1136/JNNP.74.SUPPL_3.III31
doi: 10.1136/JNNP.74.SUPPL_3.III31
pubmed: 12933912
pmcid: 1765633
Coutinho PM, da Silva AM, Lopes J et al (1980) Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Amyloid and amyloidosis. Excerpta Medica, Amsterdam, pp 88–98
Baschieri F, Calandra-Buonaura G, Doria A et al (2015) Cardiovascular autonomic testing performed with a new integrated instrumental approach is useful in differentiating MSA-P from PD at an early stage. Park Relat Disord 21:477–482. https://doi.org/10.1016/j.parkreldis.2015.02.011
doi: 10.1016/j.parkreldis.2015.02.011
Araki S, Yi S (2000) Pathology of familial amyloidotic polyneuropathy with TTR Met 30 in Kumamoto, Japan. Neuropathology 20:47–51
doi: 10.1046/j.1440-1789.2000.00299.x
Ando Y, Adams D, Benson MD et al (2022) Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis. Amyloid 9(3):143-155. https://doi.org/10.1080/13506129.2022.2052838
doi: 10.1080/13506129.2022.2052838
pubmed: 36120830
Benson MD, Waddington-Cruz M, Berk JL et al (2018) Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med 379:22–31. https://doi.org/10.1056/nejmoa1716793
doi: 10.1056/nejmoa1716793
pubmed: 29972757
Adams D, Gonzalez-Duarte A, O’Riordan WD et al (2018) Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 379:11–21. https://doi.org/10.1056/nejmoa1716153
doi: 10.1056/nejmoa1716153
pubmed: 29972753
Cruz MW (2019) Tafamidis for autonomic neuropathy in hereditary transthyretin (ATTR) amyloidosis: a review. Clin Auton Res 29:19–24. https://doi.org/10.1007/s10286-019-00625-9
doi: 10.1007/s10286-019-00625-9
pubmed: 31407119
pmcid: 6763524