Vascular collagen fibril morphology in type IV ehlers-Danlos syndrome

Crowther, M. A.; Lach, Bolesław; Dunmore, P J; Roach, Margot R.

doi:10.3109/03008209109029157

Cited by 21 publications

(10 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The vascular pathology in this case was most apparent in the ruptured bowel, but was also seen at the liver hilum and elsewhere in the abdomen and retroperitoneum: blood vessels in these areas had walls that varied in thickness and had discontinuous and frayed elastic tissue fibers. Thin vascular collagen fibrils in affected patients [17] probably account for some of the variation in their vessel wall thickness. Vessels from the bowel of other patients with EDS type IV have fibrotic [18] and discontinuous [19] muscle layers.…”

Section: Discussionmentioning

confidence: 99%

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

et al. 1999

View full text Add to dashboard Cite

Ehlers-Danlos syndrome (EDS) type IV is a heritable disorder resulting from mutations in the COL3A1 gene that cause deficient production of type III collagen. Clinical manifestations of EDS type IV include hypermobility of small joints, excessive bruisability, thin translucent skin, poor wound healing, bowel rupture, and vascular rupture that is often fatal. A 14-year-old male without a family history of EDS died following multiple bowel and abdominal blood vessel ruptures. Even in areas apart from rupture sites, the bowel wall was thin because of diminished submucosa and muscularis propria. Similarly, the walls of blood vessels in bowel submucosa and elsewhere in the abdomen varied in thickness, and contained frayed and fragmented elastic tissue fibers. Fibroblasts cultured from the patient's skin secreted reduced quantities of type III collagen that was explained by a point mutation in one copy of the COL3A1 gene. EDS type IV should be strongly suspected in any patient with otherwise unexplainable bowel and/or vessel rupture.

show abstract

Section: Discussionmentioning

confidence: 99%

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

et al. 1999

View full text Add to dashboard Cite

show abstract

“…Case studies have indicated that arteries in individuals with EDS IV may have thin walls, poorly organized collagen layers, or reduced distensibility [2][3][4]. Such morphological features may be detectable by non-invasive imaging and offer a target for assessing prognosis or evaluating potential treatments.…”

mentioning

confidence: 99%

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV

Kerwin

Pepin

Mitsumori

et al. 2007

Int J Cardiovasc Imaging

View full text Add to dashboard Cite

The purpose of this study was to investigate whether large arteries in subjects with Ehlers-Danlos Syndrome Type IV (EDS IV) exhibit altered morphological and functional characteristics that might indicate the risk of complications. Subjects with EDS IV, an inherited disorder of type III collagen, have a significant lifetime risk of arterial rupture. Magnetic Resonance Imaging (MRI) of the aorta and carotid artery was used to measure diameter, wall thickness, pulse propagation velocity, and spin-spin relaxation time constant (T(2)) of the artery walls. These measurements were made and compared by a two-sided t-test in 17 subjects with EDS IV and in eight age and gender matched sibling controls. Additionally, Spearman correlation was computed between measurements and the average longevity of affected relatives. Comparing controls to 15 subjects with no known prior aortic complications, we found no differences in the diameters of the descending thoracic and abdominal aortas, but did find ascending aorta dilatation in two subjects (13%). We also found a trend in EDS IV subjects toward higher wall thicknesses after normalizing by body surface area for both the abdominal aorta (P=0.05) and the common carotid artery (P=0.07). Finally, we found a significant negative correlation (R= -0.82, P=0.02) between age-adjusted pulse propagation velocity and familial longevity. In conclusion, preliminary evidence suggests that elevated pulse propagation velocity, which indicates reduced vessel distensibility, may be a risk factor for complications of EDS IV. Ascending aorta dilatation and increased vessel wall thickness were also found in subjects with EDS IV and represent potential risk factors for future study.

show abstract

“…4 Arteries of the thorax and abdomen are the most commonly involved, but extremity and head/neck arteries may also be affected. 4,6 More specifically, arterial manifestations have been described in the aorta, 7 the carotid artery, 4,5,8 intracranial arteries, 6,9,10 the cervical artery, 8 the splenic artery, 11,12 the renal artery, 11,13 the iliac artery, 14 the celiac artery, the hepatic artery, the superior mesenteric artery, and the pancreaticoduodenal artery. 11 Uterine rupture in association with EDS type IV typically occurs in late pregnancy.…”

Section: Prahlow and Wagnermentioning

confidence: 98%

“…[1][2][3][4] Type III collagen is found in blood vessels, skin, and hollow viscera, and these locations tend to be affected in EDS type IV. 3,5 Joint hypermobility and hyperextensibility of the skin are relatively unusual in the vascular form of EDS. 4,6 The clinical diagnosis of EDS type IV is based on 4 clinical criteria: easy bruising, thin skin with visible veins, characteristic facial features, and a propensity for arterial, uterine, or intestinal rupture.…”

Section: Prahlow and Wagnermentioning

confidence: 99%

“…Light microscopic features of arteries in persons with EDS are nonspecific; however, morphologically abnormal collagen fibrils can be identified by transmission electron microscopy. 5 A final issue regarding EDS and autopsy findings deserves comment. The skin fragility and bruisability in persons with EDS may, depending on the circumstances, simulate abusive injuries.…”

Section: Prahlow and Wagnermentioning

confidence: 99%

See 1 more Smart Citation

Death Due to Ehlers-Danlos Syndrome Type IV

Prahlow

Wagner²

2005

American Journal of Forensic Medicine &Amp; Pathology

View full text Add to dashboard Cite

Ehlers-Danlos syndrome (EDS) represents a group of collagen connective tissue disorders characterized by joint laxity, easy bruising, and various skin manifestations. Persons with type IV EDS are at risk for gastrointestinal, uterine, and arterial rupture. Mutations in the COL3A1 gene that encodes for type III procollagen underlie the pathologic abnormalities. Forensic pathologists must be aware of this rare, autosomal-dominant connective tissue disorder. Postmortem diagnosis is possible but requires specialized testing (fibroblast culture and subsequent biochemical assays, with or without molecular studies). When the condition is diagnosed or suspected at autopsy, it is important for forensic pathologists to notify family members of this potentially lethal disorder. Three cases of type IV EDS diagnosed by forensic pathologists are presented, followed by a discussion of the disorder.

show abstract

Vascular collagen fibril morphology in type IV ehlers-Danlos syndrome

Cited by 21 publications

References 38 publications

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV

Death Due to Ehlers-Danlos Syndrome Type IV

Contact Info

Product

Resources

About