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Inicio Medicina Clínica (English Edition) Early diagnosis in patients with transthyretin familial amyloid polyneuropathy: ...
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Vol. 148. Issue 2.
Pages 63-66 (January 2017)
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Vol. 148. Issue 2.
Pages 63-66 (January 2017)
Brief report
Early diagnosis in patients with transthyretin familial amyloid polyneuropathy: A comparative study
Diagn??stico precoz en pacientes con polineuropat??a amiloid??tica familiar asociada a transtirretina. Estudio comparativo
Manuel Raya-Cruza,
Corresponding author

Corresponding author.
, Juan Buades-Reinesa, Cristina G??llego-Lez??una, Tom??s Ripoll-Verab, Mercedes Us??n-Mart??nc, Eugenia Cisneros-Barrosod
a Servicio de Medicina Interna, Hospital Son Ll??tzer, Palma de Mallorca, Spain
b Servicio de Cardiolog??a, Hospital Son Ll??tzer, Palma de Mallorca, Spain
c Servicio de Neurolog??a, Hospital Son Ll??tzer, Palma de Mallorca, Spain
d Clinical Research Coordinator A-TTR Group, Hospital Son Ll??tzer, Palma de Mallorca, Spain
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Figures (1)
Tables (2)
Table 1. Clinical and demographic characteristics of both groups.
Table 2. Touch Pressure test and Heat Pain test comparison between cases and controls.
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Introduction and 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.


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.


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).


The neurophysiological tests performed revealed significant differences between both groups, allowing for an earlier detection of neurological injuries compared to conventional neurological examinations.

Nerve conduction study
Peripheral neuropathy
Quantitative sensory testing
Introducción y objetivo

La polineuropatía amiloidótica familiar causada por transtirretina) está caracterizada por la afectación del sistema nervioso. Las fibras nerviosas pequeñas se alteran de manera más precoz, por lo que la detección de su afectación tiene implicaciones serias en la historia natural de la enfermedad.


Estudio transversal, en el que se realizaron pruebas de detección de afectación de fibras nerviosas pequeñas en pacientes sintomáticos con TTR-PAF: Vibration, Touch Pressure (TP) y Heat Pain (HP). Los resultados se compararon con la exploración neurológica convencional y con un grupo de individuos sanos.


Se seleccionaron 15 pacientes con TTR-PAF en una fase precoz de la enfermedad (60% en estadio 1) y 13 individuos sanos. En la comparación entre ambos grupos no existían diferencias en cuanto a sexo, edad, peso, talla o IMC; sin embargo, en los test neurofisiológicos realizados se evidenciaron diferencias estadísticamente significativas: Vibration (p<0,05), TP (p<0,05) y HP (p<0,05, excepto en la localización de antebrazo).


Los test neurofisiológicos realizados describen diferencias significativas entre ambos grupos, lo que podría permitir la detección del daño neurológico de forma más precoz que cuando se realiza una exploración neurológica convencional.

Palabras clave:
Estudios de conducci??n nerviosa
Neuropat??a perif??rica
Test cuantitativos sensitivos


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