Changing patterns in the vascular form of Ehlers-Danlos syndrome

We report and analyze two cases of Ehlers-Danlos syndrome (EDS) type 4. The first manifestation of the disease was a spontaneous perforation of the colon in a 47-year-old man; he was successfully reoperated on five years later for the rupture of an abdominal aortic aneurysm. Abdominal pain demonstrated the syndrome in a 33-year-old woman in whom multiple abdominal aneurysms were found. A ligation of the anterior tibial artery for spontaneous rupture was performed five years later. Light and electron microscopic studies of the skin disclosed similar alterations in both cases. The diameter of the collagen fiber bundles was reduced and the diameter of collagen fibrils was increased. It appears that EDS type 4 might be less characteristic than has been previously described. Classification of the different types of EDS according to electron microscopy is not possible.     

The Ehlers-Danlos specter revisited

Ehlers-Danlos type IV is a major concern to vascular surgeons because it is often associated with spontaneous hemorrhage from arteries containing decreased type III collagen. Five members of a family with Ehlers-Danlos type IV and a review of another family of five with Ehlers-Danlos type IV are reported. Evaluation of the recent family included clinical evaluation as well as assay of collagen production. The age range of the three involved females and two males was 7 to 52 years. The father of the affected family had a spontaneous colon perforation at age 39. His son, at age 27, had a spontaneous rupture of the iliac artery. Revascularization was accomplished with difficulty. His daughter had a large cerebral bleed. Two granddaughters, ages 7, have not had any bleeding or aneurysmal events. The amount of type III collagen was only 10% of normal in the patient with the iliac artery rupture. The three females all exhibited similarly low levels of type III collagen. The father's type III collagen level was not sufficiently low to confirm Ehlers-Danlos type IV, although he had a spontaneous colon perforation. In the other Ehlers-Danlos type IV family of five, the three surviving members had type III collagen levels as low as 5% of normal. Two family members died after spontaneous iliac rupture at ages 24 and 33. Both families exhibited an autosomal dominant inheritance pattern. Ehlers-Danlos type IV remains a challenging problem for vascular surgeons. It is transmitted as an autosomal dominant inheritance with a high degree of penetrance. Spontaneous arterial and intestinal perforations should alert the clinician to the possibility of Ehlers-Danlos type IV. Patients should be evaluated noninvasively. Arterial repairs may not be successful in these patients because the vessels are extremely friable. Assays of collagen production are advisable in establishing the diagnosis.     

Aneurysmal rupture of the pancreaticoduodenal artery successfully treated by transcatheter arterial embolization

We report a case of aneurysmal rupture of the pancreaticoduodenal artery successfully treated by transcatheter arterial embolization. A 61-year-old man with a history of hypertension underwent surgery at our hospital in November 1995 for local peritonitis caused by perforation of the sigmoid colon secondary to cancer. On the 9th postoperative day, he developed shock, with complaints of epigastric and back pain. Abdominal computed tomography showed an enhanced mass, thought to be a peripancreatic aneurysm. Emergency angiography demonstrated an aneurysm arising from the arcade of the anterior pancreaticoduodenal artery. After diagnostic angiography, transcatheter arterial embolization was performed. With steel coils, the anterior superior pancreaticoduodenal artery and anterior inferior pancreaticoduodenal artery were embolized near the origin of the aneurysm. Angiography 7 weeks later revealed no recanalization of the aneurysm and the absence of anomalous collateral vessels. The patient has been well for 19 months without re-bleeding or recurrence of sigmoid colon cancer. Transcatheter arterial embolization is an effective therapeutic approach for aneurysm of the pancreaticoduodenal artery and is the preferred initial treatment. Received for publication on July 14, 1997; accepted on Sept. 30, 1997     

Vascular Ehlers-Danlos syndrome: a clinical syndrome to be known by every anaesthesiologist and intensive care physician

We report the case of a 29-year-old female who presented with a series of major vascular complications in rapid succession: haemothorax following rupture of a mammary artery aneurysm, pulmonary embolism, anterior myocardial infarction secondary to spontaneous dissection of the left anterior descending artery and rupture of a false aneurysm of the splenic artery. A diagnosis of Ehlers-Danlos syndrome (vascular variant) was considered the most likely in this context. Characterized by an extreme vascular fragility, this rare disease poses important clinical management issues for the anaesthetist and intensive care physician.     

Spontaneous rupture of common iliac artery: a case of Ehlers-Danlos syndrome and review of the literature

Authors report an uncommon case of spontaneous rupture of common iliac artery in a man 43 years old with Ehlers-Danlos syndrome. The clinical presentation was devious in the beginning and catastrophic after few hours with a haemo-peritoneum and haemorragic shock. The Ehlers-Danlos syndrome is a rare affection of the connective tissue with an incidence of 1/5000, representing one of the most common disorders of the connective tissue. This disease is characterized by the fragility of arteries, intestine and uterus. Its presentation is often catastrophic, with rupture of a big artery, rupture of uterus during pregnancy or bowel perforation. The mean age of death in subjects with Ehlers-Danlos syndrome is 45 years. This syndrome is inherited in most cases in an autosomal dominant manner; 50% of the cases are due to new mutations. A minority of cases, due to deficit of tenascina X, is inherited in an autosomal recessive manner.     

Pancreatoduodenal Artery Aneurism rupture post colonoscopy – Case report

IntroductionComplications related to colonoscopy is considered low and in most cases involves intestinal perforation. Vascular complications involving aneurysm rupture are rare in the literature and may occur after colonoscopy.Presentation of the caseWe report a case of a 58-year-old male patient that ruptured pancreatoduodenal artery aneurysm after colonoscopy, successfully submitted to endovascular treatment.DiscussionColonoscopy is frequently used as a diagnostic procedure. The risk of complication inherent to the procedure is considered low, and intestinal perforation is one of the most frequent.Other complications may present similar clinical symptoms, and it is necessary to complement the diagnostic investigation to offer the most appropriate treatment for the patient.Among the complications, there is one report of aneurysm rupture after performing colonoscopies and no case involving aneurysm rupture of pancreatoduodenal artery has been reported to date.ConclusionA patient with ruptured pancreatoduodenal artery aneurysm is a rare entity that can be adequately treated with endovascular intervention. This is the first report of rupture related to colonoscopy.     

Spontaneous bladder rupture owing to atherosclerotic emboli: a case report

We report a case of spontaneous intraperitoneal rupture of the bladder in an elderly man with severe atherosclerotic vascular disease who had widespread systemic evidence of an arterial embolic phenomenon after elective abdominal aortic aneurysm repair. Atherosclerotic plaques were identified in the vesical arteries and were believed to be the primary event responsible for spontaneous vesical perforation. The clinical presentation, diagnosis and principles of management of vesical rupture are discussed.     

Colon perforation in Ehlers-Danlos syndrome: Report of two cases and review of the literature

Two cases of spontaneous perforation of the colon in Ehlers-Danlos syndrome type IV are reported, and eight cases previously reported in the English literature are reviewed. Emergency surgery for acute free colon perforation in patients with Ehlers-Danlos syndrome should be carried out in the following standard manner: exteriorization of the perforation or resection of the involved colon with end colostomy, and either closure of the rectal stump (Hartmann procedure) or distal mucous colostomy. The reported experience although small, indicates that a high incidence of recurrent perforation can be expected if bowel continuity is reestablished. Permanent colostomy status, therefore, appears advisable, despite the young ages of most of the patients.     

Endovascular aortic repair for spontaneous rupture of a non-aneurysmal infrarenal aorta

We report the case of a patient who underwent an endovascular aortic repair for spontaneous rupture of a non-aneurysmal infrarenal aorta. A 67-year-old male with a diagnosis of infrarenal aortic rupture was referred to our hospital. Preoperative computed tomography showed focal ulcers adjacent to the site of rupture, with no evidence of aneurysm formation, suggesting that this aortic rupture was likely to be associated with perforation of penetrating atheromatous ulceration. Open surgical repair might have carried a high-risk because of the patient's history of laparotomy and respiratory impairment, so endovascular aortic repair was planned. We deployed a Powerlink proximal infrarenal cuff 25-25-75L at the rupture site through the femoral artery, with the additional placement of two extra large Palmaz stents at the proximal and distal sites of the Powerlink stent-graft. Completion angiography showed total exclusion with no endoleaks. The patient was successfully extubated on the third postoperative day and recovered well until he contracted aspiration pneumonia two weeks after surgery. Unfortunately, he eventually died of a non-aortic cause three months after the operation. Endovascular aortic repair may be an alternative to conventional surgical repair for high-risk patients with spontaneous infrarenal aortic rupture.     

Massive lower gastrointestinal tract bleeding due to splenic artery aneurysm: a case report

True aneurysm of the splenic artery is the third most common intraabdominal aneurysm and constitutes 60% of all visceral aneurysms. The incidence of splenic artery aneurysms ranges from 0.01% to as high as 10.4% in the elderly. In approximately 30% of cases, the aneurysm may rupture into a viscus. Aneurysmal rupture into the colon is a potentially fatal but extremely uncommon complication. We report a case of splenic artery aneurysm communicating with the descending colon, presenting as massive lower gastrointestinal tract bleeding. The patient was treated and survived the episode. In English literature, fewer than 15 cases have been described with only two patients surviving.     

Spontaneous rupture of the thoracic aorta

A case was presented of spontaneous rupture of the descending aorta through an atheromatous plaque without aneurysm or aortic dissection at the site of rupture. A 65 year-old-female with past history of well controlled hypertension developed chest pain along with hypovolemic shock. The patient underwent emergency CT examination which revealed left pleural effusion. There were no signs of a false lumen or aneurysm. At surgery a 5 mm of perforation in the mid portion of descending aorta was found to be surrounded by a large hematoma. The perforation was successfully plicated with predget-supported sutures. Spontaneous rupture of thoracic aorta is a rare, life-threatening condition for which emergency diagnostic and therapeutic measures are indicated. Only 7 cases could be found in the review of the literature, and this is the first reported case in this country.     

Midaortic syndrome in childhood associated with a ruptured cerebral aneurysm: a case report

BACKGROUND: We present a patient with a midaortic syndrome who presented with subarachnoid hemorrhage caused by rupture of an anterior communicating artery aneurysm.CASE DESCRIPTION: A 14-year-old boy with midaortic syndrome was admitted to our hospital because of subarachnoid hemorrhage due to rupture of an anterior communicating artery aneurysm. He also developed acute renal failure due to previously controlled hypotension. After blood dialysis, successful clipping of the aneurysm was performed. The postoperative course was complicated by malignant renovascular hypertension due to midaortic syndrome. Medical treatment failed to control his hypertension; left primary nephrectomy improved his condition.CONCLUSION: Although midaortic syndrome is rare, it may be significant as a cause of cerebral hemorrhage in childhood.     

Ruptured tibial artery in neurofibromatosis type 1: A case report

IntroductionNeurofibromatosis type 1 (NF-1) or von Recklinghausen's disease, an autosomal dominant genetic disorder, is characterized by a café au lait spot and cutaneous neurofibromas. It typically involves the skin, nerves, bones, muscles, and eyes, and occasionally involves vascular complications and can lead to life-threatening hemorrhage.Case presentationWe present the case of a 77-year-old female with a posterior tibial artery rupture with NF-1. She presented with sudden right lower leg swelling, pain, paresthesia, and paralysis; computed tomography images revealed popliteal artery aneurysm with surrounding hematoma, expanding from the posterior aspect of the knee to the calf. Diagnosed with compartment syndrome, due to a ruptured right popliteal artery aneurysm, she underwent prosthetic replacement of the popliteal aneurysm. Intraoperatively, the fragility of the popliteal artery was noted, although no perforation site was recognized despite the aneurysm; active bleeding originated from the hematoma between the calf muscles. Intraoperative digital subtraction angiography revealed an extravasation at the branch of the posterior tibial artery that was managed by coil embolization of the posterior tibial artery.Clinical discussionAlthough the frequency of NF-1 vasculopathy is unknown, vasculopathy is the second most common cause of mortality in patients with NF-1, after malignancy. The less invasive endovascular approach might be preferable for treating NF-1-related aneurysm. The NF-related vasculopathy lesion sites are diverse, and intraoperative angiography would help confirm the diagnosis.ConclusionNF-1-related vasculopathy may be associated with vascular fragility, and the endovascular approach might be preferable. Endovascular-first approach could have helped in correct diagnosis in the present case.     

Rupture of excluded popliteal artery aneurysm: implications for type II endoleaks--a case report

The fate of popliteal artery aneurysms after ligation and bypass is believed to be relatively innocuous. The patient presented in this report, however, experienced spontaneous rupture of a popliteal aneurysm 11 years after ligation and bypass. Magnetic resonance angiography was used to establish the diagnosis of rupture, which was subsequently confirmed at surgery. Intraoperative arteriography demonstrated persistent collateral arterial perfusion of the excluded popliteal aneurysm sac. The collateral arterial flow originated from the superior and inferior lateral genicular arteries. The persistent arterial perfusion resulted in growth of the aneurysm from 4.2 to 7.0 cm over the 11-year period. The ruptured aneurysm was successfully treated by direct arterial exposure and suture ligation of the collateral vessels performed from within the aneurysm sac. The development of popliteal aneurysm expansion and rupture as a result of collateral arterial perfusion suggests that persistent collateral perfusion of abdominal aortic aneurysms after endovascular repair (type II endoleak) may lead to aneurysm rupture. Therefore, close observation and intervention for aneurysm expansion to prevent rupture of the excluded aneurysm are warranted.     

Spontaneous coronary artery dissection in Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a heterogeneous group of connective tissue disorders with type IV, the vascular subtype, behaving as the most severe largely due to spontaneous arterial aneurysm and dissection. In this case report we describe a spontaneous left anterior descending coronary artery dissection treated with coronary artery bypass graft in a patient with Ehlers-Danlos syndrome type IV.     

Spontaneous free perforation and perforated abscess in 30 patients with Crohn''s disease.

Spontaneous free perforation is an uncommon event in the natural history of Crohn's disease. It occurred in 21 of 1415 patients (1.5%) admitted with Crohn's disease to The Mount Sinai Hospital between 1960 and 1983. The mean duration from onset of Crohn's disease to occurrence of perforation was 3.3 years. Ten patients had small bowel perforation, ten patients had large bowel perforation, and one patient had simultaneous perforation of both ileum and cecum. The incidence of perforation in disease segments of small bowel was 1.0% (jejunum 6.0%, ileum 0.7%), and in the colon, 1.3%. Besides the 21 patients with spontaneous free perforation, an additional nine patients had spontaneous free rupture of an abscess into the peritoneal cavity. The mean duration from onset of Crohn's disease to rupture of abscess was 8.5 years. All 30 patients had surgery within 24 hours of perforation or rupture. All 21 patients with spontaneous free perforations survived, as did all but one of the nine patients with perforated abscess. The cornerstone of the treatment of ileocolonic lesions perforating into the general peritoneal cavity is proximal diversion with delayed reconstruction of intestinal continuity whenever possible. With perforation of the small bowel, primary reanastomosis is possible in selected patients.     

Survival after spontaneous aortic rupture in a patient with Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is a rare inherited disorder of connective tissue characterized by hyperextensible skin, hypermobile joints, and abnormalities of the cardiovascular system. Most patients are unaware of their disease until a catastrophic event such as arterial rupture or bowel perforation occurs. Aortic disruption accounts for many of the deaths in EDS type IV cases and only two cases of survival after spontaneous aortic rupture have previously been reported. We report on a third case of a survivor of spontaneous abdominal aortic rupture in EDS type IV.     

Combined surgery for the treatment of bilateral subclavian artery aneurysm in Marfan syndrome

Large bilateral aneurysm of the subclavian artery is an infrequent entity that can progress to thrombosis, embolization, or rupture if left untreated. Treatment consists of exclusion of the aneurysm by an endovascular procedure or open surgery. We present a case of large bilateral subclavian artery aneurysm in a patient with Marfan syndrome that was treated by a combination of endovascular and conventional surgery. This therapeutic approach provided good results for patency with lower morbidity and mortality.     

Occlusion of a hepatic arterial aneurysm with gianturco coils in a patient with the Ehlers-Danlos syndrome

Successful transcatheter occlusion of a proper hepatic arterial aneurysm in a patient with type IV Ehlers-Danlos syndrome is reported. This patient also had multiple, small intrahepatic arterial aneurysms, stenosis, and vascular occlusions. A spontaneous colonic perforation brought this patient to medical attention.     

Spontaneous Rupture of Hypogastric Artery Aneurysm into the Bladder: A Case Report and Review of the Literature

Isolated internal iliac artery (hypogastric) aneurysms are rare. The incidence is less than 0.9%. They are usually asymptomatic. Symptoms can be due to compression of adjacent pelvic structures such as the bladder, ureters, and colon. Rupture of hypogastric artery aneurysms into the bladder has rarely been reported and, when present, is associated with prior abdominal instrumentation or trauma. There is one case where an arteriovesicular fistula formed spontaneously without any instrumentation or trauma, similar to our case. We describe an unusual case of an 81-year-old male with spontaneous rupture of a hypogastric artery aneurysm into the urinary bladder presenting as gross hematuria. This case illustrates the importance of a high index of suspicion in diagnosis and early treatment to reduce morbidity and mortality.