[Pulmonary involvement in familial amyloid polyneuropathy type I].
Familial amyloid polyneuropathy type 1 or Corino Andrade's disease (FAP 1) is classified amongst the hereditary systemic amyloidosis, being autosomically dominant and preferably affecting the peripheral nervous system. Our country is the fourth world focus with regard to incidence, preceded only by Portugal, Japan, and Sweden. Amyloid involvement is rare, generally following primary forms. There are only three cases described of these hereditary forms, none of which is of the FAP type 1. Our goal is to present a patient diagnosed of FAP type 1 who developed hemoptysis during the course of her disease, observing an amyloid bronchial infiltrate in the samples obtained by bronchoscopy. This is the first case described of pulmonary involvement in this type of amyloidosis according to the literature reviewed.
Díaz Lobato
S
S
Servicio de Neumología, Hospital La Paz.
Guerrero
E
E
González
P
P
Crespo
M
M
Esteban
R
R
Villasante
C
C
D000328:Adult; D000686:Amyloidosis / Q000235:genetics / Q000473:pathology; D001706:Biopsy; D001980:Bronchi / Q000473:pathology; D005260:Female; D006801:Humans; D008168:Lung / Q000473:pathology; D008171:Lung Diseases / Q000235:genetics / Q000473:pathology; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology; D013577:Syndrome
Afección pulmonar en la polineuropatía amiloidótica familiar tipo I.