| Journal: | Revista médica de Chile |
| Database: | PERIÓDICA |
| System number: | 000457839 |
| ISSN: | 0034-9887 |
| Authors: | Matamala, José Manuel1 Peña, Camila1 Moreno Roco, Javier1 Alvarez, Jaime2 Villegas, Pablo3 Stuardo, Andres4 Puga, Bárbara5 Valjalo, Ricardo6 Correa, Gonzalo6 Jeraldo, Cecilia3 Méndez, Gonzalo7 Larrondo, Jorge8 Gosch, Marianne8 Carrasco, Rodrigo9 |
| Institutions: | 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 |
| Year: | 2022 |
| Season: | Sep |
| Volumen: | 150 |
| Number: | 9 |
| Pages: | 1260-1265 |
| Country: | Chile |
| Language: | Español |
| Document type: | Artículo |
| Approach: | Caso clínico, descriptivo |
| English abstract | 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 |
| Disciplines: | Medicina |
| Keyword: | Neurología, Genética, Amiloidosis hereditaria, Transtiretina, Dolor neuropático, Polineuropatías |
| Keyword: | Neurology, Genetics, Hereditary amyloidosis, Transthyretin, Neuropathic pain, Polyneuropathy |
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