title: Early diagnosis in patients with transthyretin familial amyloid polyneuropathy: A comparative study.
abstract: OBJECTIVE
  Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a disease caused by the deposit of abnormal transthyretin on tissues, mainly nerves. Small nerve fibers are altered earlier during the course of the disease; hence, detection of their involvement may have serious consequences on the natural history of disease.
  
  
  METHODS
  A cross-sectional, observational study, was carried out on symptomatic patients, involving the conduct of several tests for small nerve fibers: Vibration, Touch Pressure (TP) and Heat Pain (HP). Results were compared with those obtained during a conventional neurological examination carried out on a group of healthy individuals.
  
  
  RESULTS
  Fifteen symptomatic patients were recruited at an early stage of the disease (60% stage 1), along with 13 healthy individuals, with both patient groups having similar epidemiological characteristics in terms of gender, age, weight, height or BMI. A comparison carried out between the neuropsychological tests performed revealed statistically significant differences: Vibration (P<.05), TP (P<.05) and HP (P<.05, except volar forearm).
  
  
  CONCLUSIONS
  The neurophysiological tests performed revealed significant differences between both groups, allowing for an earlier detection of neurological injuries compared to conventional neurological examinations.
authors.affiliation: Servicio de Medicina Interna, Hospital Son Llàtzer, Palma de Mallorca, España. Electronic address: manuelraya@hotmail.com.
authors.forename: Manuel
authors.initials: M
authors.lastname: Raya-Cruz
authors.affiliation: Servicio de Medicina Interna, Hospital Son Llàtzer, Palma de Mallorca, España.
authors.forename: Juan
authors.initials: J
authors.lastname: Buades-Reines
authors.affiliation: Servicio de Medicina Interna, Hospital Son Llàtzer, Palma de Mallorca, España.
authors.forename: Cristina
authors.initials: C
authors.lastname: Gállego-Lezáun
authors.affiliation: Servicio de Cardiología, Hospital Son Llàtzer, Palma de Mallorca, España.
authors.forename: Tomás
authors.initials: T
authors.lastname: Ripoll-Vera
authors.affiliation: Servicio de Neurología, Hospital Son Llàtzer, Palma de Mallorca, España.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Usón-Martín
authors.affiliation: Clinical Research Coordinator A-TTR group, Hospital Son Llàtzer, Palma de Mallorca, España.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Cisneros-Barroso
mesh_terms: D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis*; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination / Q000379:methods*; D009483:Neuropsychological Tests
keywords: Amiloidosis; Amyloidosis; Estudios de conducción nerviosa; Nerve conduction study; Neuropatía periférica; Peripheral neuropathy; Quantitative sensory testing; Test cuantitativos sensitivos; Transthyretin; Transtirretina