Pulmonary, gastrointestinal and liver vascular malformations in Rendu-Osler disease.
Hereditary hemorrhagic telangiectasia (HHT) is an angiodysplastic disorder transmitted in autosomal dominant fashion. This case report describes a 46-year-old woman with multiple arteriovenous malformations that eventually caused multiorgan failure. The diagnosis was made in the early childhood based on frequently recurring episodes of severe epistaxis. Telangiectases were found in the skin, the visible mucosal linings, gastrointestinal and bronchial mucosa and liver. Episodes of severe hemoptysis necessitated partial resection of the right lung middle lobe at the age of 22. Liver dysfunction associated with the primary disease was diagnosed by the characteristic clinical picture, laboratory findings and instrumental examinations including abdominal ultrasonography, upper endoscopy, liver CT venography.
Grudeva-Popova
J G
JG
Higher Medical Institute, Clinic of Hematology, 15A Vassil Aprilov St., 4000 Plovdiv, Bulgaria.
Vakrilov
V A
VA
Karnolski
I N
IN
D001808:Blood Vessels / Q000002:abnormalities*; D004064:Digestive System / Q000098:blood supply*; D017707:Erythrocyte Transfusion; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008099:Liver / Q000098:blood supply*; D008168:Lung / Q000098:blood supply*; D008875:Middle Aged; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics / Q000473:pathology* / Q000628:therapy