RESUMO
Background and objective: We report 2 carriers of the TTRV30M mutation and its plasmatic biochemical marker with clinical symptoms compatible with hereditary TTR amyloidosis. Materials and methods: Based on our previously reported casual finding of amyloid TTR in nasal mucosa (2008), we requested biopsy of this tissue to search for amyloid with Congo red staining and TTR immunohistochemical analysis. Results: The histological diagnosis was achieved by retrospective analysis of surgical sinonasal biopsy in the first patient and prospective biopsy of inferior nasal concha in the second. Large interstitial deposits of ATTR were observed in both cases. Conclusions: We suggest nasal mucosa as a suitable site for tissue biopsy in patients with suspected hereditary TTR amyloidosis (AU)
Antecedentes y objetivo: Presentamos 2 portadores de la mutación TTRV30M y su marcador bioquímico plasmático, con síntomas sugestivos de amiloidosis hereditaria TTR. Material y métodos: Basándonos en el hallazgo casual de amiloide TTR en la mucosa nasal previamente publicado (2008), indicamos la biopsia de este tejido para la búsqueda de amiloide TTR con tinción Rojo Congo y análisis inmunohistoquímico de TTR. Resultados: El diagnóstico histológico se logró en el primer enfermo con análisis retrospectivo de la biopsia de material operatorio sinonasal, y en el segundo con biopsia prospectiva del cornete nasal inferior. En ambos casos se observaron grandes depósitos intersticiales de amiloide de amiloidosis hereditaria relacionada con transtirretina. Conclusiones: Consideramos que la biopsia de la mucosa nasal es idónea para el diagnóstico de pacientes con sospecha de amiloidosis hereditaria TTR (AU)
Assuntos
Humanos , Masculino , Feminino , Amiloidose/congênito , Amiloidose/diagnóstico , Biópsia/métodos , Biomarcadores/análise , Biomarcadores/química , Biomarcadores/metabolismo , Biomarcadores Tumorais/química , Mucosa Nasal/anormalidades , Mucosa Nasal/química , Amiloide/análise , Amiloide , Estudos Retrospectivos , Imuno-Histoquímica/métodos , Imuno-Histoquímica/normas , Imuno-HistoquímicaRESUMO
BACKGROUND AND OBJECTIVE: We report 2 carriers of the TTRV30M mutation and its plasmatic biochemical marker with clinical symptoms compatible with hereditary TTR amyloidosis. MATERIALS AND METHODS: Based on our previously reported casual finding of amyloid TTR in nasal mucosa (2008), we requested biopsy of this tissue to search for amyloid with Congo red staining and TTR immunohistochemical analysis. RESULTS: The histological diagnosis was achieved by retrospective analysis of surgical sinonasal biopsy in the first patient and prospective biopsy of inferior nasal concha in the second. Large interstitial deposits of ATTR were observed in both cases. CONCLUSIONS: We suggest nasal mucosa as a suitable site for tissue biopsy in patients with suspected hereditary TTR amyloidosis.
