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Diagnóstico precoz en pacientes con polineuropatía amiloidótica familiar asociada a transtirretina. Estudio comparativo

2016; Elsevier BV; Volume: 148; Issue: 2 Linguagem: Inglês

10.1016/j.medcli.2016.09.044

1578-8989

Manuel Raya‐Cruz, Juan Buades, Cristina Gallego‐Lezaún, Tomás Ripoll‐Vera, Mercedes Usón‐Martín, Eugenia Cisneros‐Barroso,

Pancreatitis Pathology and Treatment

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.