Clinical measures in transthyretin familial amyloid polyneuropathy

Muscle Nerve. 2017 Mar;55(3):323-332. doi: 10.1002/mus.25257. Epub 2016 Dec 16.


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.

Keywords: Neuropathy Impairment Score; Norfolk Quality of Life; amyloidosis; modified body mass index; nerve fiber function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amyloid Neuropathies, Familial / diagnosis*
  • Amyloid Neuropathies, Familial / psychology
  • Amyloid Neuropathies, Familial / therapy*
  • Analysis of Variance
  • Cross-Sectional Studies
  • Disease Progression
  • Female
  • Humans
  • Male
  • Middle Aged
  • Nerve Fibers / pathology
  • Nerve Fibers / physiology
  • Quality of Life*
  • Severity of Illness Index*
  • Statistics, Nonparametric
  • Young Adult

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related