Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome.
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.
van Bon
Arianne C
AC
Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
Kristinsson
Jón O
JO
van Krieken
J H J M
JH
Wanten
Geert J
GJ
D018784:Abdominal Abscess / Q000209:etiology; D000784:Aortic Dissection / Q000209:etiology; D017545:Aortic Aneurysm, Thoracic / Q000209:etiology; D055499:Catheter-Related Infections / Q000209:etiology; D024061:Collagen Type III / Q000235:genetics; D003964:Diaphragm / Q000293:injuries; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007412:Intestinal Fistula / Q000209:etiology; D008297:Male; D008875:Middle Aged; D010185:Pancreatic Fistula / Q000209:etiology; D010195:Pancreatitis / Q000209:etiology; D010375:Pedigree; D017354:Point Mutation; D013156:Splenectomy / Q000009:adverse effects; D013158:Splenic Diseases / Q000150:complications* / Q000473:pathology / Q000601:surgery; D013161:Splenic Rupture / Q000209:etiology* / Q000601:surgery; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
C439971:COL3A1 protein, human; D024061:Collagen Type III