RESUMEN
The possibility of a patient with familial ATTR amyloidosis receiving a liver from an asymptomatic variant TTR carrier is remote [corrected].However, in 2008, it was reported that this unlikely event occurred in a patient in Portugal. We report our protocol for early diagnosis and management of this entity.
Asunto(s)
Amiloidosis Familiar/diagnóstico , Trasplante de Hígado , Prealbúmina/genética , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/etiología , Neuropatías Amiloides Familiares/genética , Neuropatías Amiloides Familiares/terapia , Amiloidosis Familiar/etiología , Amiloidosis Familiar/genética , Amiloidosis Familiar/terapia , Diagnóstico Precoz , Humanos , Hígado/metabolismo , Mutación , Prealbúmina/metabolismoRESUMEN
We report the case of a female patient with familial amyloid polyneuropathy (FAP) who demonstrated TTR amyloid deposition in the inferior nasal conchal vessels. To our knowledge this location has not been described previously in FAP; in addition, it was detected in a patient who had undergone successful liver transplantation (LTX) 4 years earlier. The amyloid deposition was found incidentally during examination of a right nasal obstruction caused by a nonspecific inflammatory polyp. Small focal deposits of amyloid TTR were observed on deep thick walled vessels, contrasting with the massive deposition reported in neoformed vessels in amyloidomas. This amyloid was clearly deposited between the onset of FAP and LTX and had probably decreased since the graft. If amyloid deposition is frequent in inferior nasal concha in FAP, this location could be a suitable biopsy site.