2008 年 75 巻 5 号 p. 254-261
Vascular type of Ehlers-Danlos syndrome (EDS), also known as EDS type IV (NIM#130050) is a life-threatening autosomal dominant inherited disorder of connective tissue, caused by mutations of the COL3A1 gene. Vascular EDS causes severe fragility of connective tissues with arterial and intestinal ruptures and complications of surgical and radiological treatment, and is of particular importance to medical professionals of many specialties: surgeons, internists, radiologists, and obstetricians. An accurate diagnosis may help in the management of visceral complications. In addition, when a family is faced with new information concerning a positive genetic test for vascular EDS, it is crucial that follow-up care for the family include comprehensive genetic counseling. After the genetic diagnosis of a COL3A1 mutation, various medical specialists, including the clinical geneticists must cooperate to perform genetic counseling and to provide a system of long-term follow up for individuals with vascular EDS.
