«Red flags» en pacientes con polineuropatía amiloidótica familiar relacionada con transtiretina (hATTR) en el momento del diagnóstico en un área no endémica de España / Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain

Introducción: La polineuropatía relacionada con el depósito de amiloide por transtiretina (hATTR, por sus siglas en inglés) es una enfermedad poco común, multisistémica, de inicio en la edad adulta con un pronóstico ominoso sin tratamiento. Para reconocer la enfermedad en la etapa más temprana posible, se ha propuesto un grupo de signos y síntomas, comúnmente conocidos como «red flags», y su presencia puede indicar la presencia de una hATTR subyacente en pacientes con polineuropatía sensitivo-motora progresiva.Materiales y métodosSe analizó la frecuencia de «red flags» en el momento del diagnóstico en 30 pacientes con hATTR de un área no endémica de España, con una mayoría de pacientes de inicio tardío.ResultadosLas frecuencias de «red flags» fueron las siguientes: síndrome del túnel carpiano bilateral 15/30 (50%); disautonomía temprana en 17/30 (56%); síntomas gastrointestinales en 14/30 (46,6%); pérdida inexplicable de peso en 8/30 (26,6%); enfermedad cardiaca en 12/30 (40%); hallazgos cardiacos asintomáticos en 13/30 (43,3%); enfermedad renal en 1/30 (3,3%); opacidades vítreas en 0/30 (0%); neuropatía familiar en 21/30 (70%); cardiopatía familiar en 15/30 (50%) y antecedentes familiares gastrointestinales en 3/30 (10%). Todos los pacientes presentaron al menos una «red flag» en el momento del diagnóstico, con una mediana de 4 «red flags».ConclusiónLas «red flags», incluso en los pacientes de inicio tardío, fueron hallazgos comunes en el momento del diagnóstico y su presencia en un paciente con polineuropatía sensitivo-motora simétrica debería alertarnos y conducir el diagnóstico a lo largo de la hATTR hasta excluirlo, independientemente de la edad de inicio o de la región endémica. (AU)

Introduction: Hereditary transthyretin (hATTR) amyloidosis with polyneuropathy is a rare multisystemic disease characterised by onset during adulthood and associated with poor prognosis if untreated. A set of signs and symptoms, commonly known as “red flags,” have been proposed to assist in early detection of the disease; presence of red flags may suggest underlying hATTR amyloidosis in patients with progressive sensorimotor polyneuropathy.Material and methodsWe analysed the frequency of red flags at the time of diagnosis in 30 patients with hATTR amyloidosis in a non-endemic area of Spain; onset was late in the majority of patients.ResultsThe frequencies of the red flags were as follows: bilateral carpal tunnel syndrome in 15 patients (50%), early autonomic dysfunction in 17 (56%), gastrointestinal problems in 14 (46.6%), unexplained weight loss in 8 (26.6%), heart disease in 12 (40%), asymptomatic cardiac findings in 13 (43.3%), kidney disease in one (3.3%), vitreous opacities in none, family history of neuropathy in 21 (70%), family history of heart disease in 15 (50%), and family history of gastrointestinal problems in 3 (10%). All patients presented at least one red flag at diagnosis, with a median of 4 red flags.ConclusionRed flags were common at the time of diagnosis, even in patients with late-onset hATTR amyloidosis. Presence of red flags in a patient with symmetrical sensorimotor polyneuropathy should serve as a warning sign, and lead to targeted diagnosis to rule out hATTR amyloidosis, independently of age of onset. (AU)

Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain.

INTRODUCTION: Hereditary transthyretin (hATTR) amyloidosis with polyneuropathy is a rare multisystemic disease characterised by onset during adulthood and associated with poor prognosis if untreated. A set of signs and symptoms, commonly known as "red flags," have been proposed to assist in early detection of the disease; presence of red flags may suggest underlying hATTR amyloidosis in patients with progressive sensorimotor polyneuropathy. MATERIAL AND METHODS: We analysed the frequency of red flags at the time of diagnosis in 30 patients with hATTR amyloidosis in a non-endemic area of Spain; onset was late in the majority of patients. RESULTS: The frequencies of the red flags were as follows: bilateral carpal tunnel syndrome in 15 patients (50%), early autonomic dysfunction in 17 (56%), gastrointestinal problems in 14 (46.6%), unexplained weight loss in 8 (26.6%), heart disease in 12 (40%), asymptomatic cardiac findings in 13 (43.3%), kidney disease in one (3.3%), vitreous opacities in none, family history of neuropathy in 21 (70%), family history of heart disease in 15 (50%), and family history of gastrointestinal problems in 3 (10%). All patients presented at least one red flag at diagnosis, with a median of 4 red flags. CONCLUSION: Red flags were common at the time of diagnosis, even in patients with late-onset hATTR amyloidosis. Presence of red flags in a patient with symmetrical sensorimotor polyneuropathy should serve as a warning sign, and lead to targeted diagnosis to rule out hATTR amyloidosis, independently of age of onset.

Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain. / «Red flags¼ en pacientes con polineuropatía amiloidótica familiar relacionada con transtiretina (hATTR) en el momento del diagnóstico en un área no endémica de España.

INTRODUCTION: Hereditary transthyretin (hATTR) amyloidosis with polyneuropathy is a rare multisystemic disease characterised by onset during adulthood and associated with poor prognosis if untreated. A set of signs and symptoms, commonly known as "red flags," have been proposed to assist in early detection of the disease; presence of red flags may suggest underlying hATTR amyloidosis in patients with progressive sensorimotor polyneuropathy. MATERIAL AND METHODS: We analysed the frequency of red flags at the time of diagnosis in 30 patients with hATTR amyloidosis in a non-endemic area of Spain; onset was late in the majority of patients. RESULTS: The frequencies of the red flags were as follows: bilateral carpal tunnel syndrome in 15 patients (50%), early autonomic dysfunction in 17 (56%), gastrointestinal problems in 14 (46.6%), unexplained weight loss in 8 (26.6%), heart disease in 12 (40%), asymptomatic cardiac findings in 13 (43.3%), kidney disease in one (3.3%), vitreous opacities in none, family history of neuropathy in 21 (70%), family history of heart disease in 15 (50%), and family history of gastrointestinal problems in 3 (10%). All patients presented at least one red flag at diagnosis, with a median of 4 red flags. CONCLUSION: Red flags were common at the time of diagnosis, even in patients with late-onset hATTR amyloidosis. Presence of red flags in a patient with symmetrical sensorimotor polyneuropathy should serve as a warning sign, and lead to targeted diagnosis to rule out hATTR amyloidosis, independently of age of onset.