Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes.
Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is a syndrome characterized by multiorgan telangiectases and arteriovenous malformations. A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis (JPS). We present one such family. Genetic testing is warranted when either HHT or JPS is diagnosed, as early recognition of this syndrome overlap allows appropriate management of these patients.
Poletto
Erica D
ED
Department of Radiology, Montefiore Medical Center, 111 E. 210th St., Bronx, NY 10467, USA. eweinber@montefiore.org
Trinh
Angela M
AM
Levin
Terry L
TL
Tsirilakis
Kalliope
K
Loizides
Anthony M
AM
D011125:Adenomatous Polyposis Coli / Q000000981:diagnostic imaging* / Q000235:genetics*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000000981:diagnostic imaging* / Q000235:genetics*; D014057:Tomography, X-Ray Computed