Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome.
SourceAnnals of Vascular Surgery, 23, 2, (2009), pp. 256.e1-4
Article / Letter to editor
Display more detailsDisplay less details
Annals of Vascular Surgery
SubjectIGMD 2: Molecular gastro-enterology and hepatology; NCMLS 6: Genetics and epigenetic pathways of disease; ONCOL 1: Hereditary cancer and cancer-related syndromes; ONCOL 2: Age-related aspects of cancer; ONCOL 3: Translational research
This case report describes concurrent splenic peliosis and vascular Ehlers-Danlos syndrome (EDS) in a 59-year-old male patient. After splenic rupture due to peliosis, the complicated postoperative period hinted at the possibility of vascular EDS. This diagnosis was confirmed by genetic testing, which revealed a novel point mutation in the COL3A1 gene, c.2545G-->C, leading to a codon encoding for arginine instead of glycine (p.Gly849Arg). In addition, a histological diagnosis of splenic peliosis could be established.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.