title: Nasal mucosa: a new site for tissue biopsy to diagnose hereditary TTR amyloidosis.
abstract: OBJECTIVE
  We report 2 carriers of the TTRV30M mutation and its plasmatic biochemical marker with clinical symptoms compatible with hereditary TTR amyloidosis.
  
  
  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.
authors.affiliation: Grupo de Estudio de la PAF, Majorca, Spain. Electronic address: munar-ques@ogm.jazztel.es.
authors.forename: Miguel
authors.initials: M
authors.lastname: Munar-Qués
authors.affiliation: Servicio de Anatomía Patológica, Hospital Clínic, Universidad de Barcelona, Barcelona, Spain.
authors.forename: Manel
authors.initials: M
authors.lastname: Solé
authors.affiliation: Servicio de Otorrinolaringología, Hospital Universitario Son Espases, Majorca, Spain.
authors.forename: Jacinto
authors.initials: J
authors.lastname: Martínez-Nadal
authors.affiliation: Servicio de Otorrinolaringología, Clínica Rotger, Majorca, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Murcia-Sáiz
authors.affiliation: Servicio de Anatomía Patológica, Clínica Rotger, Majorca, Spain.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Mas-Degano
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000473:pathology*; D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009297:Nasal Mucosa / Q000473:pathology*; D058225:Plaque, Amyloid / Q000473:pathology*
keywords: ATTR en mucosa nasal; ATTR in nasal mucosa; Amiloidosis hereditaria relacionada con transtirretina; Análisis retrospectivo de biopsia operatoria; Hereditary TTR amyloidosis; Retrospective analysis of operative biopsy