Clinical Cues for the Early Diagnosis of Transthyretin-Related Polyneuropathy
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Background and Purpose The estimated prevalence of hereditary transthyretin-related familial amyloid polyneuropathy (TTR-FAP) and the small number of known patients in Germany indicate that many patients with TTR-FAP remain undiagnosed, and may instead be classified as “idiopathic.” The aim of this study was to identify biomarkers for detecting TTR-FAP among a cohort of patients with idiopathic polyneuropathy (PNP). Methods Clinical evaluations (including the Neuropathy Impairment Score and Neuropathy Disability Score), nerve conduction studies (NCSs), quantitative sensory testing, and autonomic function tests were performed on 23 patients with TTR-FAP and 89 with idiopathic PNP. Discriminant analysis was then performed to identify variables useful for predicting TTR-FAP. Results Patients with TTR-FAP had paresis of the finger and thumb muscles, and reduced vibration perception and increased pressure pain in the upper and lower extremities. The NCSs showed that action potentials were smaller in the median, ulnar (both motor and sensory), and sural nerves in TTR-FAP. The sensory nerve conduction velocity was also reduced in the ulnar nerve. Autonomic neuropathy was confirmed by reduced sympathetic skin responses in the hands and feet in TTR-FAP. Multivariate discriminant analysis revealed that finger abduction strength, sensory ulnar nerve action potential amplitude, and vibration detection and pressure pain thresholds in the upper extremities were sufficient to correctly identify TTR-FAP in 81.3% of cases. Conclusions Detailed clinical and neurophysiological investigations of standard parameters in the upper limb may help to identify the otherwise-rare TTR-FAP.
Abstract
Background and Purpose The estimated prevalence of hereditary transthyretin-related familial amyloid polyneuropathy (TTR-FAP) and the small number of known patients in Germany indicate that many patients with TTR-FAP remain undiagnosed, and may instead be classified as “idiopathic.” The aim of this study was to identify biomarkers for detecting TTR-FAP among a cohort of patients with idiopathic polyneuropathy (PNP). Methods Clinical evaluations (including the Neuropathy Impairment Score and Neuropathy Disability Score), nerve conduction studies (NCSs), quantitative sensory testing, and autonomic function tests were performed on 23 patients with TTR-FAP and 89 with idiopathic PNP. Discriminant analysis was then performed to identify variables useful for predicting TTR-FAP. Results Patients with TTR-FAP had paresis of the finger and thumb muscles, and reduced vibration perception and increased pressure pain in the upper and lower extremities. The NCSs showed that action potentials were smaller in the median, ulnar (both motor and sensory), and sural nerves in TTR-FAP. The sensory nerve conduction velocity was also reduced in the ulnar nerve. Autonomic neuropathy was confirmed by reduced sympathetic skin responses in the hands and feet in TTR-FAP. Multivariate discriminant analysis revealed that finger abduction strength, sensory ulnar nerve action potential amplitude, and vibration detection and pressure pain thresholds in the upper extremities were sufficient to correctly identify TTR-FAP in 81.3% of cases. Conclusions Detailed clinical and neurophysiological investigations of standard parameters in the upper limb may help to identify the otherwise-rare TTR-FAP.
참고문헌 (29)
- Rowczenio DM, "Online registry for mutations in hereditary amyloidosis including nomenclature recommendations", Hum Mutat, 35, pp.E2403~E2412 (2014)
- Andrade C, "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves", Brain, 75, pp.408~427 (1952)
- Adams D, "Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy", J Neurol, 268, pp.2109~2122 (2021)
- Ando Y, "Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis", Amyloid, 29, pp.143~155 (2022)
- Schmidt HH, "Estimating the global prevalence of transthyretin familial amyloid polyneuropathy", Muscle Nerve, 57, pp.829~837 (2018)
- Notermans NC, "Chronic idiopathic axonal polyneuropathy : a five year follow up", J Neurol Neurosurg Psychiatry, 57, pp.1525~1527 (1994)
- Visser NA, "Incidence of polyneuropathy in Utrecht, the Netherlands", Neurology, 84, pp.259~264 (2015)
- Yamamoto S, "Liver transplantation for familial amyloidotic polyneuropathy(FAP) : a single-center experience over 16 years", Am J Transplant, 7, pp.2597~2604 (2007)
- Dyck PJ, "Longitudinal assessment of diabetic polyneuropathy using a composite score in the Rochester Diabetic Neuropathy Study cohort", Neurology, 49, pp.229~239 (1997)
- Freynhagen R, "painDETECT : a new screening questionnaire to identify neuropathic components in patients with back pain", Curr Med Res Opin, 22, pp.1911~1920 (2006)
- Rolke R, "Quantitative sensory testing in the German Research Network on Neuropathic Pain(DFNS) : standardized protocol and reference values", Pain, 123, pp.231~243 (2006)
- Shahani BT, "Sympathetic skin response--a method of assessing unmyelinated axon dysfunction in peripheral neuropathies", J Neurol Neurosurg Psychiatry, 47, pp.536~542 (1984)
- Toyokura M, "Paradoxical shortening of sympathetic skin response latency at distal recording sites", Clin Neurophysiol, 120, pp.123~127 (2009)
- Spitzer A, "Cardiac autonomic involvement and peripheral nerve function in patients with diabetic neuropathy", Funct Neurol, 12, pp.115~122 (1997)
- Krämer HH, "Follow-up of advanced diabetic neuropathy : useful variables and possible pitfalls", J Neurol, 252, pp.315~320 (2005)
- Hopf HC, "Atlas of Electromyography. Practical approach and reliable assessment of findings" (1996), Thieme
- Gauss CF, "Carl Friedrich Gauss work: Calculation of Probability and Geometry" (1873), Gesellschaft der Wissenschaften zu Göttingen
- Magerl W, "Reference data for quantitative sensory testing(QST) : refined stratification for age and a novel method for statistical comparison of group data", Pain, 151, pp.598~605 (2010)
- McLachlan G, "Selection of variables in discriminant-analysis", Biometrics, 36, pp.554~ (1980)
- Escolano-Lozano F, "Transthyretin familial amyloid polyneuropathy(TTR-FAP) : parameters for early diagnosis", Brain Behav, 8, pp.e00889~ (2018)
- Lubec D, "Diagnostic work-up in peripheral neuropathy : an analysis of 171 cases", Postgrad Med J, 75, pp.723~727 (1999)
- Verghese JP, "Amyloid neuropathy in multiple myeloma and other plasma cell dyscrasias. A hypothesis of the pathogenesis of amyloid neuropathies", J Neurol Sci, 59, pp.237~246 (1983)
- McKenzie GA, "MRI of pathology-proven peripheral nerve amyloidosis", Skeletal Radiol, 46, pp.65~73 (2017)
- Murakami T, "Magnetic resonance imaging of dorsal root ganglion in a pre-symptomatic subject with familial amyloid polyneuropathy transthyretin E61K", J Neurol Sci, 440, pp.120329~ (2022)
- Tozza S, "The neuropathy in hereditary transthyretin amyloidosis : a narrative review", J Peripher Nerv Syst, 26, pp.155~159 (2021)
- McCarty DE, "Recurrence analysis of the EEG during sleep accurately identifies subjects with mental health symptoms", Psychiatry Res, 224, pp.335~340 (2014)
- Hair JF Jr, "Multivariate data analysis" (2007), Pearson
- Adams D, "Hereditary transthyretin amyloidosis : a model of medical progress for a fatal disease", Nat Rev Neurol, 15, pp.387~404 (2019)
- Tozza S, "A compound score to screen patients with hereditary transthyretin amyloidosis", J Neurol, 269, pp.4281~4287 (2022)