Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies.
Cardiomyopathy
Carpal tunnel syndrome
Orthopaedic surgery
Transthyretin amyloidosis
Journal
European journal of heart failure
ISSN: 1879-0844
Titre abrégé: Eur J Heart Fail
Pays: England
ID NLM: 100887595
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
03
07
2019
revised:
18
12
2019
accepted:
21
12
2019
pubmed:
25
1
2020
medline:
18
5
2021
entrez:
25
1
2020
Statut:
ppublish
Résumé
We aimed to assess carpal tunnel syndrome (CTS) prevalence in transthyretin (TTR)-related and light-chain amyloidosis (AL), comparing it to the general population, adjusted for age and gender. In TTR-related amyloidosis (ATTR) we investigated (i) CTS prevalence in relation to genotype, cardiac amyloidosis (CA), age and gender; (ii) CTS role as an incremental risk factor for CA; (iii) temporal relationship between CTS and CA; and (iv) CTS prognostic role. Data from 538 subjects (166 hereditary ATTR, 107 wild-type ATTR, 196 AL amyloidosis, and 69 TTR mutation carriers; 64% male, median age 62.4 years), evaluated at our centre (Bologna, Italy), were analysed and compared to a published cohort of 14.9 million people, in which incidence rates of CTS had been estimated. CTS prevalence was highest in ATTR patients with CA (20.3% vs. 4.1% in the general population), while it was comparable to the general population when CA was absent and in AL patients. CTS standardized incidence rates were markedly elevated in ATTR males in the eighth decade of life (13.08 in hereditary ATTR, 15.5 in wild-type ATTR). The risk of developing CA was greater in ATTR patients with CTS; the probability of having CTS was highest 5-9 years prior to CA diagnosis. CTS was an independent mortality risk factor in ATTR. Compared to general population the adjusted prevalence of CTS is higher among elderly men with ATTR; CTS is a prognostic marker in ATTR, independently of cardiac involvement, and precedes CA diagnosis by 5-9 years. The awareness of this association and time delay offers the possibility of an early pre-clinical ATTR-CA diagnosis.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
507-515Subventions
Organisme : Investigator-Initiated Research grant to University of Bologna
Pays : International
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2020 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
Références
Pourmemari MH, Heliövaara M, Viikari-Juntura E, Shiri R. Carpal tunnel release: lifetime prevalence, annual incidence, and risk factors. Muscle Nerve 2018;58:497-502.
Farioli A, Curti S, Bonfiglioli R, Baldasseroni A, Spatari G, Mattioli S, Violante FS. Observed differences between males and females in surgically treated carpal tunnel syndrome among non-manual workers: a sensitivity analysis of findings from a large population study. Ann Work Expo Health 2018;62:505-515.
Mattioli S, Baldasseroni A, Curti S, Cooke RM, Bena A, de Giacomi G, Dell'Omo M, Fateh-Moghadam P, Melani C, Biocca M, Buiatti E, Campo G, Zanardi F, Violante FS. Incidence rates of in-hospital carpal tunnel syndrome in the general population and possible associations with marital status. BMC Public Health 2008;8:374.
Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet 2016;387:2641-2654.
Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, Salvi F, Ciliberti P, Pastorelli F, Biagini E, Coccolo F, Cooke RM, Bacchi-Reggiani L, Sangiorgi D, Ferlini A, Cavo M, Zamagni E, Fonte ML, Palladini G, Salinaro F, Musca F, Obici L, Branzi A, Perlini S. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation 2009;120:1203-1212.
Aus dem Siepen F, Hein S, Prestel S, Baumgärtner C, Schönland S, Hegenbart U, Röcken C, Katus HA, Kristen AV. Carpal tunnel syndrome and spinal canal stenosis: harbingers of transthyretin amyloid cardiomyopathy? Clin Res Cardiol 2019;108:1324-1330.
González-López E, Gagliardi C, Dominguez F, Quarta CC, De Haro-Del Moral FJ, Milandri A, Salas C, Cinelli M, Cobo-Marcos M, Lorenzini M, Lara-Pezzi E, Foffi S, Alonso-Pulpon L, Rapezzi C, Garcia-Pavia P. Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths. Eur Heart J 2017;38:1895-1904.
Maurer MS, Hanna M, Grogan M, Dispenzieri A, Witteles R, Drachman B, Judge DP, Lenihan DJ, Gottlieb SS, Shah SJ, Steidley DE, Ventura H, Murali S, Silver MA, Jacoby D, Fedson S, Hummel SL, Kristen AV, Damy T, Planté-Bordeneuve V, Coelho T, Mundayat R, Suhr OB, Waddington Cruz M, Rapezzi C. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol 2016;68:161-172.
Rubin J, Alvarez J, Teruya S, Castano A, Lehman RA, Weidenbaum M, Geller JA, Helmke S, Maurer MS. 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;24:226-230.
Sperry BW, Reyes BA, Ikram A, Donnelly JP, Phelan D, Jaber WA, Shapiro D, Evans PJ, Maschke S, Kilpatrick SE, Tan CD, Rodriguez ER, Monteiro C, Tang WH, Kelly JW, Seitz WH, Hanna M. Tenosynovial and cardiac amyloidosis in patients undergoing carpal tunnel release. J Am Coll Cardiol 2018;72:2040-2050.
Sekijima Y, Uchiyama S, Tojo K, Sano K, Shimizu Y, Imaeda T, Hosjii Y, Kato H, Ikeda S. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 2011;42:1785-1791.
Nakamichi KI, Tachibana S. Amyloid deposition in the synovium and ligament in idiopathic carpal tunnel syndrome. Muscle Nerve 1996;19:1349-1351.
Kyle RA, Gertz MA, Linke RP. Amyloid localized to tenosynovium at carpal tunnel release. Immunohistochemical identification of amyloid type. Am J Clin Pathol 1992;97:250-253.
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AW, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016;133:2404-2412.
Lang RM, Badano LP, Mor-Avi V, Afilalo J, Armstrong A, Ernande L, Flachskampf FA, Foster E, Goldstein SA, Kuznetsova T, Lancellotti P, Muraru D, Picard MH, Rietzschel ER, Rudski L, Spencer KT, Tsang W, Voigt JU. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Eur Heart J Cardiovasc Imaging 2015;16:233-270.
Ferlini A, Fini S, Salvi F, Patrosso MC, Vezzoni P, Forabosco A. Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. FASEB J 1992;6:2864-2866.
Perugini E, Guidalotti PL, Salvi F, Cooke RM, Pettinato C, Riva L, Leone O, Farsad M, Ciliberti P, Bacchi-Reggiani L, Fallani F, Branzi A, Rapezzi C. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol 2005;46:1076-1084.
Gagliardi C, Perfetto F, Lorenzini M, Ferlini A, Salvi F, Milandri A, Quarta CC, Taborchi G, Bartolini S, Frusconi S, Martone R, Cinelli MM, Foffi S, Reggiani ML, Fabbri G, Cataldo P, Cappelli F, Rapezzi C. Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure. Eur J Heart Fail 2018;20:1417-1425.
Damy T, Costes B, Hagège AA, Donal E, Eicher JC, Slama M, Guellich A, Rappeneau S, Gueffet JP, Logeart D, Plant-Bordeneuve V, Bouvaist H, Huttin O, Mulak G, Dubois-Rand JL, Goossens M, Canoui-Poitrine F, Buxbaum JN. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur Heart J 2016;37:1826-1834.
Connors LH, Sam F, Skinner M, Salinaro F, Sun F, Ruberg FL, Berk JL, Seldin DC. Heart failure resulting from age-related cardiac amyloid disease associated with wild-type transthyretin: a prospective, observational cohort study. Circulation 2016;133:282-290.
Carr AS, Pelayo-Negro AL, Evans MR, Laurà M, Blake J, Stancanelli C, Iodice V, Wechalekar AD, Whelan CJ, Gillmore JD, Hawkins PN, Reilly MM. A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK. J Neurol Neurosurg Psychiatry 2016;87:620-627.
Lefaucheur JP, Ng Wing Tin S, Kerschen P, Damy T, Planté-Bordeneuve V. Neurophysiological markers of small fibre neuropathy in TTR-FAP mutation carriers. J Neurol 2013;260:1497-1503.
Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F, Biagini E, Lorenzini M, Grigioni F, Leone O, Cappelli F, Palladini G, Rimessi P, Ferlini A, Arpesella G, Pinna AD, Merlini G, Perlini S. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 2013;34:520-528.
Nakagawa M, Sekijima Y, Yazaki M, Tojo K, Yoshinaga T, Doden T, Koyama J, Yanagisawa S, Ikeda SI. Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. Amyloid 2016;23:58-63.
Grogan M, Scott CG, Kyle RA, Zeldenrust SR, Gertz MA, Lin G, Klarich KW, Miller WL, Maleszewski JJ, Dispenzieri A. Natural history of wild-type transthyretin cardiac amyloidosis and risk stratification using a novel staging system. J Am Coll Cardiol 2016;68:1014-1020.
Fosbøl EL, Rørth R, Leicht BP, Schou M, Maurer MS, Kristensen SL, Kober L, Gustafsson F. Association of carpal tunnel syndrome with amyloidosis, heart failure, and adverse cardiovascular outcomes. J Am Coll Cardiol 2019;74:15-23.
Zegri-Reiriz I, de Haro-del Moral FJ, Dominguez F, Salas C, de la Cuadra P, Plaza A, Krsnik I, Gonzalez-Lopez E, Garcia-Pavia P. Prevalence of cardiac amyloidosis in patients with carpal tunnel syndrome. J Cardiovasc Transl Res 2019;12:507-513.
Mangione PP, Verona G, Corazza A, Marcoux J, Canetti D, Giorgetti S, Raimondi S, Stoppini M, Esposito M, Relini A, Canale C, Valli M, Marchese L, Faravelli G, Obici L, Hawkins PN, Taylor GW, Gillmore JD, Pepys MB, Bellotti V. Plasminogen activation triggers transthyretin amyloidogenesis in vitro. J Biol Chem 2018;293:14192-14199.
Stein K, Störkel S, Linke RP, Goebel HH. Chemical heterogeneity of amyloid in the carpal tunnel syndrome. Virchows Arch A Pathol Anat Histopathol 1987;412:37-45.
González-López E, López-Sainz Á, Garcia-Pavia P. Diagnosis and treatment of transthyretin cardiac amyloidosis. Progress and hope. Rev Esp Cardiol 2017;70:991-1004.