Article ID Journal Published Year Pages File Type
2887697 Annals of Vascular Surgery 2009 4 Pages PDF
Abstract
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.
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