Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers.
ATTRv
Amyloidotic polyneuropathy
Carpal tunnel syndrome
Nerve ultrasound
Transthyretin amyloidosis
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
13
04
2020
accepted:
28
07
2020
revised:
27
07
2020
pubmed:
5
8
2020
medline:
22
6
2021
entrez:
5
8
2020
Statut:
ppublish
Résumé
Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers. Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers. Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = - 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001). The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).
Sections du résumé
BACKGROUND
BACKGROUND
Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers.
METHODS
METHODS
Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers.
RESULTS
RESULTS
Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = - 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001).
CONCLUSIONS
CONCLUSIONS
The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).
Identifiants
pubmed: 32749600
doi: 10.1007/s00415-020-10127-8
pii: 10.1007/s00415-020-10127-8
pmc: PMC7815618
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
189-198Références
Sekijima Y (2015) Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry 86(9):1036–1043
doi: 10.1136/jnnp-2014-308724
Adams D, Ando Y, Beirão JM et al (2020) Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. https://doi.org/10.1007/s00415-019-09688-0 [published online ahead of print, 2020 Jan 6]
doi: 10.1007/s00415-019-09688-0
pubmed: 32030522
pmcid: 7035215
Planté-Bordeneuve V, Said G (2011) Familial amyloid polyneuropathy. Lancet Neurol 10(12):1086–1097
doi: 10.1016/S1474-4422(11)70246-0
Karam C, Dimitrova D, Christ M et al (2019) Carpal tunnel syndrome and associated symptoms as first manifestation of hATTR amyloidosis. Neurol Clin Pract 9(4):309–313
doi: 10.1212/CPJ.0000000000000640
Atroshi I, Gummesson C, Johnsson R et al (1999) Prevalence of carpal tunnel syndrome in a general population. JAMA 282(2):153–158
doi: 10.1001/jama.282.2.153
Padua L, Coraci D, Erra C et al (2016) Carpal tunnel syndrome: clinical features, diagnosis, and management. Lancet Neurol 15(12):1273–1284
doi: 10.1016/S1474-4422(16)30231-9
Mundayat R, Stewart M, Alvir J et al (2018) Positive Effectiveness of tafamidis in delaying disease progression in transthyretin familial amyloid polyneuropathy up to 2 years: an analysis from the transthyretin amyloidosis outcomes survey (THAOS). Neurol Ther 7(1):87–101
doi: 10.1007/s40120-018-0097-9
Benson MD, Waddington-Cruz M, Berk JL et al (2018) Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med 379(1):22–31
doi: 10.1056/NEJMoa1716793
Adams D, Gonzalez-Duarte A, O'Riordan WD et al (2018) Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 379(1):11–21
doi: 10.1056/NEJMoa1716153
Padua L, Pazzaglia C, Caliandro P et al (2008) Carpal tunnel syndrome: ultrasound, neurophysiology, clinical and patient-oriented assessment. Clin Neurophysiol 119(9):2064–2069
doi: 10.1016/j.clinph.2008.05.004
Granata G, Luigetti M, Coraci D et al (2014) Ultrasound evaluation in transthyretin-related amyloid neuropathy. Muscle Nerve 50(3):372–376
doi: 10.1002/mus.24168
Podnar S, Sarafov S, Tournev I et al (2017) Peripheral nerve ultrasonography in patients with transthyretin amyloidosis. Clin Neurophysiol 128(4):505–511
doi: 10.1016/j.clinph.2017.01.013
Bril V (1999) NIS-LL: the primary measurement scale for clinical trial endpoints in diabetic peripheral neuropathy. Eur Neurol 41(Suppl 1):8–13
doi: 10.1159/000052074
Giannini F, Cioni R, Mondelli M et al (2002) A new clinical scale of carpal tunnel syndrome: validation of the measurement and clinical-neurophysiological assessment. Clin Neurophysiol 113(1):71–77
doi: 10.1016/S1388-2457(01)00704-0
Jablecki CK, Andary MT, Floeter MK et al (2002) Practice parameter: Electrodiagnostic studies in carpal tunnel syndrome. Report of the American association of electrodiagnostic medicine, American academy of neurology, and the American academy of physical medicine and rehabilitation. Neurology 58(11):1589–1592
doi: 10.1212/WNL.58.11.1589
England JD, Gronseth GS, Franklin G et al (2005) Distal symmetrical polyneuropathy: definition for clinical research. Muscle Nerve 31(1):113–123
doi: 10.1002/mus.20233
Padua L, LoMonaco M, Gregori B, Valente EM, Padua R, Tonali P (1997) Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands. Acta Neurol Scand 96(4):211–217
doi: 10.1111/j.1600-0404.1997.tb00271.x
Padua L, Coraci D, Lucchetta M et al (2018) Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies. Muscle Nerve 57(1):E18–E23
doi: 10.1002/mus.25766
Sueyoshi T, Ueda M, Jono H et al (2011) Transthyretin-derived amyloidosis in musculoskeletal systems. Amyloid 18(Suppl 1):163–165
doi: 10.3109/13506129.2011.574354061
Mackinnon SE (2002) Pathophysiology of nerve compression. Hand Clin 18:231–241
doi: 10.1016/S0749-0712(01)00012-9
Chen SF, Huang CR, Tsai NW et al (2012) Ultrasonographic assessment of carpal tunnel syndrome of mild and moderate severity in diabetic patients by using an 8-point measurement of median nerve cross-sectional areas. BMC Med Imaging 12:15
doi: 10.1186/1471-2342-12-15
Chen IJ, Chang KV, Lou YM, et al (2019) Can ultrasound imaging be used for the diagnosis of carpal tunnel syndrome in diabetic patients? A systemic review and network meta-analysis. J Neurol doi: 10.1007/s00415-019-09254-8. [Epub ahead of print]
Kollmer J, Sahm F, Hegenbart U et al (2017) Sural nerve injury in familial amyloid polyneuropathy: MR neurography vs clinicopathologic tools. Neurology 89(5):475–484
doi: 10.1212/WNL.0000000000004178
Fleming CE, Saraiva MJ, Sousa MM (2007) Transthyretin enhances nerve regeneration. J Neurochem 103(2):831–839
doi: 10.1111/j.1471-4159.2007.04828.x
Gonçalves NP, Teixeira-Coelho M, Saraiva MJ (2014) The inflammatory response to sciatic nerve injury in a familial amyloidotic polyneuropathy mouse model. Exp Neurol 257:76–87
doi: 10.1016/j.expneurol.2014.04.030
Attarian S, Fatehi F, Rajabally YA, Pareyson D (2020) Hereditary neuropathy with liability to pressure palsies. J Neurol 267(8):2198–2206
doi: 10.1007/s00415-019-09319-8
Ginanneschi F, Filippou G, Giannini F et al (2012) Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 17(4):391–398
doi: 10.1111/j.1529-8027.2012.00437.x
Goedee SH, Brekelmans GJ, van den Berg LH, Visser LH (2015) Distinctive patterns of sonographic nerve enlargement in Charcot–Marie–Tooth type 1A and hereditary neuropathy with pressure palsies. Clin Neurophysiol 126(7):1413–1420
doi: 10.1016/j.clinph.2014.08.026
Schreiber S, Oldag A, Kornblum C et al (2013) Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP. Muscle Nerve 47(3):385–395
doi: 10.1002/mus.23681
Hanyu N, Ikeda S, Nakadai A et al (1989) Peripheral nerve pathological findings in familial amyloid polyneuropathy: a correlative study of proximal sciatic nerve and sural nerve lesions. Ann Neurol 25(4):340–350
doi: 10.1002/ana.410250405
Fujitake J, Mizuta H, Fujii H et al (2003) Late-onset familial amyloid polyneuropathy: an autopsy study of two Japanese brothers. Amyloid 10(3):198–205
doi: 10.3109/13506120308999001
Won SJ, Kim BJ, Park KS, Kim SH, Yoon JS (2012) Measurement of cross-sectional area of cervical roots and brachial plexus trunks. Muscle Nerve 46(5):711–716
doi: 10.1002/mus.23503
Kerasnoudis A, Pitarokoili K, Behrendt V, Gold R, Yoon MS (2013) Cross sectional area reference values for sonography of peripheral nerves and brachial plexus. Clin Neurophysiol 124(9):1881–1888
doi: 10.1016/j.clinph.2013.03.007
Zaidman CM, Al-Lozi M, Pestronk A (2009) Peripheral nerve size in normals and patients with polyneuropathy: an ultrasound study. Muscle Nerve 40(6):960–966
doi: 10.1002/mus.21431
Russo M, Obici L, Bartolomei I et al (2020) ATTRv amyloidosis Italian Registry: clinical and epidemiological data. Amyloid. https://doi.org/10.1080/13506129.2020.1794807 [ahead of print]
doi: 10.1080/13506129.2020.1794807
pubmed: 32981389
Conceição I, González-Duarte A, Obici L et al (2016) "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 21(1):5–9
doi: 10.1111/jns.12153
Scott KL, Conley CR, Renfree KJ (2019) Histopathologic Evaluation of Flexor Tenosynovium in Recurrent Carpal Tunnel Syndrome. Plast Reconstr Surg 143(1):169–175
doi: 10.1097/PRS.0000000000005090