Polineuropatía por amiloidosis por transtiretina de inicio tardío. Caso clínico



Título del documento: Polineuropatía por amiloidosis por transtiretina de inicio tardío. Caso clínico
Revista: Revista médica de Chile
Base de datos: PERIÓDICA
Número de sistema: 000457839
ISSN: 0034-9887
Autores: 1
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Instituciones: 1Universidad de Chile, Facultad de Medicina, Santiago de Chile. Chile
2Hospital del Salvador, Cardiología, Santiago de Chile. Chile
3Hospital del Salvador, Anatomía Patológica, Santiago de Chile. Chile
4Hospital del Salvador, Servicio de Neurología, Santiago de Chile. Chile
5Hospital del Salvador, Hematología, Santiago de Chile. Chile
6Hospital del Salvador, Nefrología, Santiago de Chile. Chile
7Pontificia Universidad Católica de Chile, Hospital Clínico, Santiago de Chile. Chile
8Hospital del Salvador, Dermatología, Santiago de Chile. Chile
9University Health Network, Ted Rogers Centre for Heart Research, Toronto, Ontario. Canadá
Año:
Periodo: Sep
Volumen: 150
Número: 9
Paginación: 1260-1265
País: Chile
Idioma: Español
Tipo de documento: Artículo
Enfoque: Caso clínico, descriptivo
Resumen en inglés Hereditary transthyretin amyloidosis is a multisystemic autosomal dominant genetic disorder characterized by progressive distal sensory-motor polyneuropathy or restrictive cardiomyopathy, secondary to amyloid deposits. Its pathogenesis lies in the TTR gene mutation, and the Val50Met mutation is the most frequent. Patients have significant differences in the onset and severity of clinical presentation according to their country of origin. The diagnosis of this pathology is complex, even more in countries where it is not considered endemic. However, early suspicion and management are essential to improve survival and avoid unnecessary diagnostic and therapeutic strategies. We report a 69-year-old woman who presented a sensory-motor polyneuropathy, predominantly sensory, associated with distal neuropathic pain and bilateral vitritis. The history of her Italian father with polyneuropathy of unspecified etiology stood out. A vitreous biopsy identified amyloid substance deposits (congo red positive). These were also confirmed on a superficial peroneal nerve biopsy. During the etiological study of her polyneuropathy, an increased Kappa/Lambda index of 2.55 mg/L stood out. Therefore, light chain amyloidosis was suspected, and chemotherapy treatment was indicated without favorable response. After 10 years of progressive neurological and ophthalmological involvement, a genetic study confirmed the first case of late-onset hereditary transthyretin amyloidosis Val50Met with polyneuropathy in Chile
Disciplinas: Medicina
Palabras clave: Neurología,
Genética,
Amiloidosis hereditaria,
Transtiretina,
Dolor neuropático,
Polineuropatías
Keyword: Neurology,
Genetics,
Hereditary amyloidosis,
Transthyretin,
Neuropathic pain,
Polyneuropathy
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