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ehlers - danlos syndrome ( eds ) is a clinically , genetically and biochemically heterogeneous group of inherited connective tissue disorders . the major manifestations of eds are skin fragility , skin hyperextensibility and joint hypermobility [ 1 , 2 ] .
the disorder was first reported in 1668 , but it was not until the early 1900s that the characteristics of the syndrome were described by ehlers   and danlos .
six types of eds have been described on the basis of clinical , genetic and/or biochemical differences .
eds is now considered a heterogeneous group of disorders , the most lethal of which is the vascular type ( veds ) , formerly called type iv eds ( mim # 130050 ) .
it is caused mainly by glycine substitution mutation in the triple helix region of the type iii collagen gene ( col3a1 : mim # 120180 ) , leading to extreme fragility of blood vessels , bowel and uterus and thus leading to spontaneous rupture .
the following is an account of a previously undiagnosed veds patient with bowel complications who was managed at our institution .
a 20-year - old female patient was referred to our hospital with abdominal pain , nausea and vomiting .
her vital signs were a temperature of 37.9c , a heart rate of 98 beats per minute and a blood pressure of 97/49 mm hg .
a computed tomography scan showed notable dilatation of the sigmoid colon with intraperitoneal fluid ( fig .
1 ) . an emergent laparotomy revealed dilatation of the sigmoid colon , breakdown of the serosa and muscularis propria of the sigmoid colon with impending perforation , and intra - abdominal hemorrhage caused by breakdown of the mesenterium of the sigmoid colon ( fig .
2 ) . as the rest of the intestine was normal , resection of the sigmoid colon with hartmann 's pouch and an end colostomy were performed .
the macroscopic appearance of the resected colon showed strong alteration of the bowel wall , with some areas showing a complete lack of the lamina muscularis propria ( fig .
the postoperative course was uneventful , and the patient was discharged from the hospital 1 month after entry .
careful physical examination showed joint hypermobility , translucent skin with venous prominence and facial structure abnormalities ( crooked nose and large eyes ) .
because of the uncommon intraoperative and clinical findings , there was a high suspicion of connective tissue disorder .
genetic analysis using cdna extracted from the patient 's fibroblasts by a reverse transcriptase polymerase chain reaction direct sequencing method showed a nucleotide change at c.2150 g > a on exon 32 ( genbank i d : nm_000090.3 ) as the reference .
this nucleotide change resulted in the amino acid change of glycine at position 717 to aspartate within the triple helix region of col3a1 ( gly717asp ) , which confirmed a diagnosis of veds ( fig .
eds comprises a group of hereditary connective tissue disorders with different genetic backgrounds and heterogeneous clinical features .
common to all of these types is an underlying defect in either collagen production or processing .
the disease is caused by heterozygous germline mutations in the type iii procollagen gene ( col3a1 ) [ 10 , 11 , 12 , 13 ] .
the diagnosis of veds depends on the combination of clinical manifestations , family history and the demonstration of collagen type iii qualitative and/or quantitative defects . as type iii collagen is most abundant in vessels and hollow organ soft tissue , defects in type iii collagen production result in vascular and hollow organ complications .
the clinical features of veds include prematurity , low birth weight , congenital dislocation of the hips , club feet , easy bruising , thin and translucent skin displaying prominent venous patterns , hypermobility of small joints , constipation , arterial aneurysms and ruptures , spontaneous pneumothorax and colonic perforations .
since skin and joint manifestations are less prominent than in the other types of eds , the diagnosis of veds often is missed until the patient presents with a major complication such as spontaneous arterial or bowel rupture .
the first complication occurs by age 20 in 25% of cases , and in 80% of cases by age 40
. as the most common complications of the disease are in the gastrointestinal tract and vascular systems , surgical approaches are troublesome for surgical teams .
early diagnosis of peritonitis is critical so that an appropriate therapy can be instituted expeditiously , including correction of fluid and electrolyte abnormalities , institution of antibiotic therapy and surgical repair of the underlying lesion .
as the tissues are extremely fragile , it is essential to avoid invasive techniques . sutures tend to tear them out , bowel walls are extremely friable and anastomosis is arduous .
small vessels are equally fragile , occasioning difficult hemostasis , oozing and hematoma formation [ 19 , 20 , 21 ] . although spontaneous bowel perforation has been reported in the literature with more than 50 cases documented , the surgical management and outcomes of this manifestation of veds have varied considerably . in a retrospective review of the literature ,
41 colonic perforations were reported , 80% of which were in the sigmoid colon . of these patients ,
66% were treated with resection and diversion , with 18 eventually undergoing restoration of intestinal continuity .
a total of 55.6% of these patients suffered a re - perforation , some with three or four perforations .
different surgical procedures have been advocated , but there is no large serial study currently available to demonstrate the superiority of any one option .
women with veds have an increased risk of complications of pregnancy as well as a 50% risk of having an affected child . major complications of pregnancy can occur in the antenatal period , during labor and delivery , and postpartum .
a maternal mortality of up to 25% has been reported due to rupture of the artery , bowel or uterus .
the complications of pregnancy include rupture of the bowel , aorta , vena cava or uterus , vaginal laceration , postpartum uterine hemorrhage , varicose veins , uterine and/or bladder prolapse , joint laxity , abdominal herniation and wound dehiscence .
these patients who become pregnant should be considered at high risk and should receive regular follow - up at specialized centers .
no specific therapy has been shown to delay or prevent further complications , and the long - term natural history of this anatomy in veds is confrontational . however ,
kazuya okada , hitoshi okubo , mitsutoshi matsuo and hiroki kishikawa contributed equally to this work ; banyar than naing , atsushi watanabe and takashi shimada contributed new analytic tools ; akira yoneda wrote the paper .
ehlers - danlos syndrome , vascular type ( veds ) ( mim # 130050 ) is an autosomal dominant disorder caused by mutation in the type iii collagen gene , col3a1 , leading to fragility of blood vessels , bowel and uterus that leads to spontaneous rupture . 
 we report a previously undiagnosed veds patient with bowel complications . 
 a 20-year - old female patient was referred to our hospital with abdominal pain . 
 computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid . 
 laparotomy revealed dilatation of the sigmoid colon , breakdown of serosa and muscularis propria of the sigmoid colon with impending perforation , and intra - abdominal hemorrhage caused by breakdown of the mesenterium . 
 resection of the sigmoid colon with hartmann 's pouch and an end colostomy were performed . 
 physical examination showed joint hypermobility , translucent skin with venous prominence and facial structure abnormalities . 
 genetic analysis using cdna extracted from the patient 's fibroblasts by reverse transcriptase polymerase chain reaction direct sequencing showed a missense mutation within the triple helix region of col3a1 ( c.2150 g > a ; gly717asp ) .