• José Manuel Matamala, Camila Peña, Javier Moreno-Roco, Jaime Álvarez, Pablo Villegas, Andres Stuardo, Bárbara Puga, Ricardo Valjalo, Gonzalo Correa, Cecilia Jeraldo, Gonzalo Méndez, Jorge Larrondo, Marianne Gosch, and Rodrigo Carrasco.
• Laboratorio de Neurología y Neurofisiología Traslacional, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
• Rev Med Chil. 2022 Sep 1; 150 (9): 126012651260-1265.

AbstractHereditary 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.

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