Genetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan

Watanabe, Atsushi; Kosho, Tomoki; Wada, Takahiro; Sakai, Noriyasu; Fujimoto, Manato; Fukushima, Yoshimitsu; Shimada, Takashi

doi:10.1253/circj.71.261

Cited by 35 publications

(27 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This produces abnormal secretion, synthesis, and structure of type III collagen, which is decreased or absent. 8,9 Clinically, patients have fragile, translucent skin with the underlying vessels clearly visible. Patients are usually underweight, of short stature, and have a characteristic facial appearance with a thin, pinched nose and prominent eyes.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous rupture of the spleen in type IV Ehlers-Danlos syndrome: Report of a case

et al. 2009

View full text Add to dashboard Cite

The vascular type of Ehlers-Danlos syndrome, type IV, is associated with severe complications, including arterial rupture and visceral perforation. However, to our knowledge, there has been only one previous report of splenic rupture caused by a spontaneous hemorrhage in type IV Ehlers-Danlos syndrome. We report another case of this uncommon complication, occurring in a 35-year-old woman who presented after the sudden onset of acute abdominal pain. Patients should be stabilized quickly in the intensive care unit and the most timesaving surgical techniques used. Moreover, tissues must be handled with great care intraoperatively in view of their extreme fragility. Despite prompt and appropriate treatment, the prognosis is often dismal.

show abstract

Section: Discussionmentioning

confidence: 99%

Spontaneous rupture of the spleen in type IV Ehlers-Danlos syndrome: Report of a case

et al. 2009

View full text Add to dashboard Cite

show abstract

“…[1][2][3][4] vEDS is characterized by four clinical criteria: easy bruising, thin skin with visible veins, characteristic facial features, and the rupturing of arteries and organs. [1][2][3][4] In addition, classic EDS patients exhibit hypermobility of the large joints and hyperextensibility of the skin. 1,2 Typically, Ehlers-Danlos syndrome (EDS) is divided into six types, and vEDS patients follow a particularly poor clinical course caused by complications from tissue weakness.…”

Section: Introductionmentioning

confidence: 99%

Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: Report of a case

et al. 2011

Self Cite

View full text Add to dashboard Cite

The vascular type of Ehlers-Danlos syndrome (vEDS) is a rare inherited disease of the connective tissues, and is caused by abnormal type III collagen resulting from heterogeneous mutations of the type III collagen COL3A1 gene. We herein report the case of a vEDS patient who developed a sigmoid colon perforation and was given a definitive diagnosis by a genetic and biomolecular assay. The patient demonstrated clinical manifestations caused by tissue weakness such as frequent pneumothorax events and a detached retina. During the operation, we noticed easy bruising and thin skin with visible veins on the patient's abdominal wall. Finally, a diagnosis was confirmed by the reduction of type III collagen synthesis and by the identification of a mutation in the gene for type III collagen. We conclude that it is difficult to diagnose a vEDS patient without clinical experiences and specialized genetic methods. Furthermore, all organs must be treated gently during therapy, because the tissues of vEDS patients are extremely fragile.

show abstract

“…The quantitative or qualitative deficit of structurally normal collagen III in vEDS and corresponding changes in the wall structure are responsible for major complications observed in afflicted individuals: arterial, bowel, and uterine ruptures. As a result of these dramatic complications, life expectancy in vEDS is shortened to a mean of Ͻ50 years (Pepin et al, 2000;Watanabe et al, 2007). Until recently, there was no evidence-based treatment or preventive strategy available (Watanabe and Shimada, 2008).…”

Section: Introductionmentioning

confidence: 99%

Doxycycline Ameliorates the Susceptibility to Aortic Lesions in a Mouse Model for the Vascular Type of Ehlers-Danlos Syndrome

Briest¹,

Cooper²,

Tae³

et al. 2011

J Pharmacol Exp Ther

View full text Add to dashboard Cite

The vascular form of Ehlers-Danlos syndrome (vEDS), a rare disease with grave complications resulting from rupture of major arteries, is caused by mutations of collagen type III [␣1 chain of collagen type III (COL3A1)]. The only, recently proven, preventive strategy consists of the reduction of arterial wall stress by ␤-adrenergic blockers. The heterozygous (HT) Col3a1 knockout mouse has reduced expression of collagen III and recapitulates features of a mild presentation of the disease. The objective of this study was to determine whether changing the balance between synthesis and degradation of collagen by chronic treatment with doxycycline, a nonspecific matrix metalloproteinase (MMP) inhibitor, could prevent the development of vascular pathology in HT mice. After 3 months of treatment with doxycycline or placebo, 9-month-old HT or wild-type (WT) mice were subjected to surgical stressing of the aorta. A 3-fold increase in stress-induced aortic lesions found in untreated HT mice 1 week after intervention (cumulative score 4.5 Ϯ 0.87 versus 1.3 Ϯ 0.34 in WT, p Ͻ 0.001) was fully prevented in the doxycycline-treated group (1.1 Ϯ 0.56, p Ͻ 0.001). Untreated HT mice showed increased MMP-9 activity in the carotid artery and decreased collagen content in the aorta; however, in doxycycline-treated animals there was normalization to the levels observed in WT mice. Doxycycline treatment inhibits the activity of tissue MMP and attenuates the decrease in the collagen content in aortas of mice haploinsufficient for collagen III, as well as prevents the development of stress-induced vessel pathology. The results suggest that doxycycline merits clinical testing as a treatment for vEDS.

show abstract

Genetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan

Cited by 35 publications

References 20 publications

Spontaneous rupture of the spleen in type IV Ehlers-Danlos syndrome: Report of a case

Spontaneous rupture of the spleen in type IV Ehlers-Danlos syndrome: Report of a case

Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: Report of a case

Doxycycline Ameliorates the Susceptibility to Aortic Lesions in a Mouse Model for the Vascular Type of Ehlers-Danlos Syndrome

Contact Info

Product

Resources

About