Clinical measures in transthyretin familial amyloid polyneuropathy. Issue 3 (16th December 2016)

• Record Type: Journal Article
• Authors: Coelho, Teresa; Vinik, Aaron; Vinik, Etta J.; Tripp, Tara; Packman, Jeff; Grogan, Donna R.
• Is Part Of: Muscle & nerve. Volume 55:Issue 3(2017)
• Page Start: 323
• Page End: 332
• Publication Date: 2016-12-16
• Subjects: amyloidosis -- modified body mass index -- nerve fiber function -- Neuropathy Impairment Score -- Norfolk Quality of Life; Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.25257
• Languages: English
• ISSNs: 0148-639X

Abstract

ABSTRACT: Introduction: This observational, cross‐sectional, single‐center study aimed to identify instruments capable of measuring disease progression in transthyretin familial amyloid polyneuropathy (TTR‐FAP). Methods: The relationship between disease stage and Neuropathy Impairment Score–Lower Limbs (NIS‐LL) and Norfolk Quality of Life–Diabetic Neuropathy (Norfolk QOL‐DN) total score was assessed in 61 (stages 1–3) patients with TTR‐FAP (V30M variant) and 16 healthy controls. Composite measures of large‐ and small‐nerve fiber function, and modified body mass index (mBMI) were also assessed. Results: Ordinal‐based NIS‐LL and Norfolk QOL‐DN scores discriminated between disease stages ( P < 0.0001 for NIS‐LL and Norfolk QOL‐DN). Longer disease duration correlated with worse NIS‐LL and Norfolk QOL‐DN. Karnofsky performance score declined progressively by disease stage. Composite measures of nerve fiber function differentiated stage 1 from stage 2 disease. The mBMI declined with advancing disease. Conclusions: NIS‐LL, Norfolk QOL‐DN score, composite endpoints of nerve fiber function, and mBMI are valid, reliable measures of TTR‐FAP severity. Muscle Nerve 55 : 323–332, 2017