Journal article
Ehlers-Danlos Syndrome Type IV and a Novel Mutation of the Type III Procollagen Gene as a Cause of Abdominal Apoplexy
Mayo Clinic proceedings, Vol.77(8), pp.861-863
2002
DOI: 10.4065/77.8.861
PMID: 12173720
Abstract
Abdominal apoplexy is a clinical entity characterized by spontaneous intraperitoneal hemorrhage from rupture of a visceral vessel. We describe a 34-year-old man who presented with abdominal apoplexy due to rupture of an ileocolic aneurysm. Subsequent biochemical and genetic analysis confirmed the diagnosis of Ehlers-Danlos syndrome type IV based on abnormal production of type III procollagen and a novel mutation in the
COL3A1 gene. Patients presenting with abdominal apoplexy should undergo a thorough examination so that the underlying vascular pathology can be identified.
Details
- Title: Subtitle
- Ehlers-Danlos Syndrome Type IV and a Novel Mutation of the Type III Procollagen Gene as a Cause of Abdominal Apoplexy
- Creators
- Imran Hassan - Division of Vascular Surgery, Mayo Clinic, Rochester, Minn (I.H., P.S.R., P.G.)Todd E Rasmussen - Department of Surgery, Uniformed Services University of Health Sciences, Bethesda, Md (T.E.R.)Ulrike Schwarze - Department of Pathology, University of Washington, Seattle (U.S.)Peter S Rose - Division of Vascular Surgery, Mayo Clinic, Rochester, Minn (I.H., P.S.R., P.G.)David A.H Whiteman - Department of Medical Genetics, Mayo Clinic, Rochester, Minn (D.A.H.W.)Peter Gloviczki - Division of Vascular Surgery, Mayo Clinic, Rochester, Minn (I.H., P.S.R., P.G.)
- Resource Type
- Journal article
- Publication Details
- Mayo Clinic proceedings, Vol.77(8), pp.861-863
- Publisher
- Elsevier Inc
- DOI
- 10.4065/77.8.861
- PMID
- 12173720
- ISSN
- 0025-6196
- eISSN
- 1942-5546
- Language
- English
- Date published
- 2002
- Academic Unit
- Surgery
- Record Identifier
- 9984051766102771
Metrics
43 Record Views