Transthyretin familial amyloid polyneuropathy (TTR-FAP): Parameters for early diagnosis.

ABSTRACT:

Background

Familial transthyretin amyloidosis is a life-threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) and compared them to polyneuropathies of different etiology for clinical and electrophysiological discriminators.

Methods

Twenty-four patients with TTR-FAP and 48 patients with diabetic polyneuropathy (dPNP) were investigated (neurological impairment score NIS; neurological disability score NDS) in a cross-sectional design. Both groups were matched for gender and presence of pain. Quantitative sensory testing (QST), sympathetic skin response (SSR), he

SUBMITTER: Escolano-Lozano F 

PROVIDER: S-EPMC5853640 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature