José Castro1, Bruno Miranda2, Isabel Castro2, Mamede de Carvalho3, Isabel Conceição3. 1. Department of Neurosciences and Mental Health, Neurology, Hospital de Santa Maria-CHLN, Lisbon, Portugal; Instituto de Medicina Molecular, Institute of Physiology, Faculty of Medicine-University of Lisbon, Portugal. Electronic address: jose.zecastro25@gmail.com. 2. Department of Neurosciences and Mental Health, Neurology, Hospital de Santa Maria-CHLN, Lisbon, Portugal. 3. Department of Neurosciences and Mental Health, Neurology, Hospital de Santa Maria-CHLN, Lisbon, Portugal; Instituto de Medicina Molecular, Institute of Physiology, Faculty of Medicine-University of Lisbon, Portugal.
Abstract
OBJECTIVE: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an axonal sensory-motor and autonomic neuropathy. Reliable quantification of sudomotor function could prove essential in the diagnosis and early treatment management. We aim to assess the diagnostic value of a new sudomotor test (Sudoscan) in TTR-FAP. METHODS: One hundred and thirty-three TTR-FAP Val30Met carriers, divided in asymptomatic and symptomatic stage 1, were compared with 37 healthy controls. We analyzed the right sural sensory nerve action potential (SNAP), the plantar sympathetic skin response (SSR) and the electrochemical skin conductance (ESC) measured by Sudoscan in both hands and feet. RESULTS: All neurophysiological measures were significantly worse in the symptomatic group. However, feet ESC was the only test distinguishing symptomatic patients with autonomic dysfunction from those without autonomic dysfunction, and both groups from asymptomatic subjects and healthy controls. Feet ESC was a significant independent predictor for the presence of symptoms and autonomic failure, after adjusting for demographic characteristics, sural SNAP and SSR amplitudes (p<0.05). Feet ESC showed 76% sensitivity and 85% specificity for detection of dysautonomia. CONCLUSION: Feet ESC is a sensitive test to assess early autonomic dysfunction in TTR-FAP subjects. This investigation should be considered for routine assessment in this population. SIGNIFICANCE: Abnormal feet responses on Sudoscan support early diagnosis in TTR-FAP.
OBJECTIVE: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an axonal sensory-motor and autonomic neuropathy. Reliable quantification of sudomotor function could prove essential in the diagnosis and early treatment management. We aim to assess the diagnostic value of a new sudomotor test (Sudoscan) in TTR-FAP. METHODS: One hundred and thirty-three TTR-FAP Val30Met carriers, divided in asymptomatic and symptomatic stage 1, were compared with 37 healthy controls. We analyzed the right sural sensory nerve action potential (SNAP), the plantar sympathetic skin response (SSR) and the electrochemical skin conductance (ESC) measured by Sudoscan in both hands and feet. RESULTS: All neurophysiological measures were significantly worse in the symptomatic group. However, feet ESC was the only test distinguishing symptomatic patients with autonomic dysfunction from those without autonomic dysfunction, and both groups from asymptomatic subjects and healthy controls. Feet ESC was a significant independent predictor for the presence of symptoms and autonomic failure, after adjusting for demographic characteristics, sural SNAP and SSR amplitudes (p<0.05). Feet ESC showed 76% sensitivity and 85% specificity for detection of dysautonomia. CONCLUSION: Feet ESC is a sensitive test to assess early autonomic dysfunction in TTR-FAP subjects. This investigation should be considered for routine assessment in this population. SIGNIFICANCE: Abnormal feet responses on Sudoscan support early diagnosis in TTR-FAP.
Authors: Adnan Khan; Saadat Kamran; Georgios Ponirakis; Naveed Akhtar; Rabia Khan; Pooja George; Blessy M Babu; Faiza M Ibrahim; Ioannis N Petropoulos; Beatriz G Canibano; Stacy S Wilins; Dirk Deleu; Ashfaq Shuaib; Rayaz A Malik Journal: PLoS One Date: 2018-03-07 Impact factor: 3.240