Jean-Pascal Lefaucheur1, Hela G Zouari2, Farida Gorram3, Tarik Nordine4, Thibaud Damy5, Violaine Planté-Bordeneuve6. 1. Université Paris Est Créteil, Faculté de Médecine, EA 4391 Créteil, France; Assistance Publique - Hôpitaux de Paris, Hôpital Henri Mondor, Unité de Neurophysiologie Clinique, Service de Physiologie, Explorations Fonctionnelles, Créteil, France; Réseau Amylose Henri-Mondor, Hôpital Henri Mondor, Créteil, France. Electronic address: jean-pascal.lefaucheur@hmn.aphp.fr. 2. Université Paris Est Créteil, Faculté de Médecine, EA 4391 Créteil, France; CHU Habib Bourguiba, Service d'Explorations Fonctionnelles, Sfax, Tunisia. 3. Réseau Amylose Henri-Mondor, Hôpital Henri Mondor, Créteil, France; Inserm, IMRB, Hôpital Henri Mondor, Centre d'Investigation Clinique, 1430 Créteil, France. 4. Université Paris Est Créteil, Faculté de Médecine, EA 4391 Créteil, France; Assistance Publique - Hôpitaux de Paris, Hôpital Henri Mondor, Unité de Neurophysiologie Clinique, Service de Physiologie, Explorations Fonctionnelles, Créteil, France. 5. Réseau Amylose Henri-Mondor, Hôpital Henri Mondor, Créteil, France; Assistance Publique - Hôpitaux de Paris, Hôpital Henri Mondor, Unité d'Insuffisance Cardiaque, Service de Cardiologie, Créteil, France; Université Paris Est Créteil, Faculté de Médecine, GRC Institut de Recherche sur l'Amylose, Créteil, France. 6. Réseau Amylose Henri-Mondor, Hôpital Henri Mondor, Créteil, France; Université Paris Est Créteil, Faculté de Médecine, GRC Institut de Recherche sur l'Amylose, Créteil, France; Assistance Publique - Hôpitaux de Paris, Hôpital Henri Mondor, Service de Neurologie, Créteil, France.
Abstract
OBJECTIVE: To reappraise the value of electrochemical skin conductance (ESC) measurement by Sudoscan® to assess the distal involvement of small autonomic fibers in familial amyloid polyneuropathy (FAP) due to various transthyretin (TTR) mutations. METHODS: ESC was measured at both hands and feet in 126 patients with either Val30Met (n = 65) or non-Val30Met (n = 61) TTR mutation. This series included clinically asymptomatic (n = 21) and paucisymptomatic (n = 30) patients, as well as patients with moderate (n = 37) or advanced (n = 38) TTR-FAP. RESULTS: ESC measures did not differ between patients according to the type of TTR variant and were reduced in 24% of clinically asymptomatic patients, 40% of paucisymptomatic patients, 65% of patients with moderate TTR-FAP, and 92% of patients with advanced TTR-FAP. ESC measures were found to correlate with patients' clinical status, especially assessed by the Neuropathy Impairment Score and Karnofsky Performance Status. CONCLUSION: ESC measures well correlate with the severity of TTR-FAP and could provide early marker of the disease. SIGNIFICANCE: ESC measures appear to be relevant to evaluate distal autonomic involvement in the context of amyloidosis.
OBJECTIVE: To reappraise the value of electrochemical skin conductance (ESC) measurement by Sudoscan® to assess the distal involvement of small autonomic fibers in familial amyloid polyneuropathy (FAP) due to various transthyretin (TTR) mutations. METHODS: ESC was measured at both hands and feet in 126 patients with either Val30Met (n = 65) or non-Val30Met (n = 61) TTR mutation. This series included clinically asymptomatic (n = 21) and paucisymptomatic (n = 30) patients, as well as patients with moderate (n = 37) or advanced (n = 38) TTR-FAP. RESULTS: ESC measures did not differ between patients according to the type of TTR variant and were reduced in 24% of clinically asymptomatic patients, 40% of paucisymptomatic patients, 65% of patients with moderate TTR-FAP, and 92% of patients with advanced TTR-FAP. ESC measures were found to correlate with patients' clinical status, especially assessed by the Neuropathy Impairment Score and Karnofsky Performance Status. CONCLUSION: ESC measures well correlate with the severity of TTR-FAP and could provide early marker of the disease. SIGNIFICANCE: ESC measures appear to be relevant to evaluate distal autonomic involvement in the context of amyloidosis.
Authors: David Adams; Vincent Algalarrondo; Michael Polydefkis; Nitasha Sarswat; Michel S Slama; Jose Nativi-Nicolau Journal: Orphanet J Rare Dis Date: 2021-10-03 Impact factor: 4.123