Type IV Ehlers-Danlos syndrome with isolated arterial involvement

Ehlers-Danlos syndrome is a connective tissue disorder characterized by skin hyperelasticity and friability, hyperextensible small articulations, vascular fragility, and ocular and visceral symptoms. Ten types of Ehlers-Danlos syndrome have been described to date. Type IV is characterized by isolated arterial involvement with the risk of rupture, making diagnosis difficult. A 25-year-old man was operated on for a ruptured left and then right iliac artery and once again for a hepatic artery aneurysm within a nine month period. The diagnosis of Ehlers-Danlos syndrome was based on clinical and histopathologic findings. An asymptomatic iliac artery aneurysm was found in the patient's 23-year-old brother.Presented at the Annual Meeting of the Societé de Chirurgie Vasculaire de Langue Française, La Grande Motte, France, May 20–21, 1988.     

Extracranial vertebral artery aneurysm ruptured into the thoracic cavity with neurofibromatosis type 1: case report

OBJECTIVE AND IMPORTANCE: We are sometimes involved in the care of patients with neurofibromatosis Type 1 because of the associated disorders of cervicocerebral vessels. However, extracranial vertebral artery aneurysm in neurofibromatosis Type 1 is very rare. We present the first reported case of a rupture of an extracranial vertebral artery aneurysm into the thoracic cavity in a patient with neurofibromatosis Type 1. CLINICAL PRESENTATION: A 52-year-old woman who presented with a decrease in left-sided grip and numbness of the left upper limb was admitted. During history taking, she developed shock. Radiological examination revealed that a left extracranial vertebral artery aneurysm had ruptured into the thoracic cavity. With consciousness decreasing gradually because of hemorrhagic shock, the patient became comatose. INTERVENTION: Balloon occlusion of the vertebral artery proximal to the aneurysm was performed and surgical ligation was attempted, but cardiac arrest occurred immediately after the beginning of surgery, and the patient died. The vertebral artery proximal to the aneurysm was removed for pathological examination. CONCLUSION: In this case, the changes noted were interpreted as changes showing fragility of the vascular wall secondary to neurofibromatosis Type 1. Patients with neurofibromatosis Type 1 exhibit disorders of cervicocerebral vessels, and in some cases progression may follow a violent course. Periodic follow-up of such patients and early diagnosis are important.     

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.     

Endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a connective tissue disorder caused by abnormal collagen synthesis. Vascular complications, including aneurysm formation and spontaneous arterial perforations, are difficult to manage surgically and result in significant operative mortality due to blood vessel fragility. We describe the first reported successful endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome. We discuss the advantages endovascular surgery offers over open surgery in these patients. We believe that endovascular repair of abdominal aortic aneurysms preferentially over open repair merits consideration in patients with Ehlers-Danlos syndrome.     

Spontaneous carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV--case report

A 30-year-old female complained of sudden onset of severe proptosis, chemosis, diplopia, and bruit. Right carotid angiography showed a high-flow direct carotid-cavernous fistula (CCF) draining into the engorged superior ophthalmic vein, inferior petrosal sinus, and pterygoid plexus. The patient experienced retroperitoneal bleeding from a ruptured right renal artery after undergoing cerebral angiography. We suspected Ehlers-Danlos syndrome (EDS) type IV, which was confirmed by showing cultured fibroblasts failed to secrete procollagen type III. Endovascular surgery cannot be considered the treatment method of choice in view of the fragility of the arteries and veins in patients with EDS type IV. We treated our patient with extracranial internal carotid artery ligation. Currently, there is no ideal treatment for CCF in patients with EDS type IV. Since CCF is rarely life-threatening, the investigative approach and course of treatment must consider the associated vascular fragility.     

Successful Coil Embolization for Spontaneous Arterial Rupture in Association with Ehlers-Danlos Syndrome Type IV: Report of a Case

When a patient with Ehlers-Danlos syndrome (EDS) presents with a vascular emergency, performing life-saving surgery can be difficult because of the profound fragility of the arterial tissue. We report the case of a 27-year-old woman with EDS in whom a spontaneous arterial rupture was successfully treated with transcatheter embolization. The patient was brought to our hospital in shock, with left lower abdominal pain. She had been diagnosed with EDS type IV following a colonic rupture 8 years earlier. An emergency angiogram revealed rupture of the left external iliac artery. The active bleeding was managed by transarterial embolization of the ruptured artery using stainless steel coils, which took 30min to achieve. The patient has not suffered any further vascular complications during the year since this procedure. Transcatheter coil embolization may be a reliable option for treating sudden arterial rupture in patients with this syndrome.     

Aneurysm of the internal carotid artery and cervical mega-dolicho-arteries in Marfan syndrome

The authors describe the case of a Marfan syndrome who presented a giant intracranial internal carotid aneurysm associated with elongation and tortuosity of internal carotid and vertebral arteries on both sides. The skin microscopic examination showed fragmentation and distorsion of elastic fibers. There was no microscopic study of the vessels. Extra and intracranial vascular abnormalities are rarely reported in marfan syndrome: cardiovascular changes are seen mostly in aorta and pulmonary artery. In the literature are reported some giant aneurysms, dissections and dilatations of carotid, basilar and vertebral arteries. Usually the microscopic examination of the vessels show cystic medial necrosis. Other connective tissue diseases (pseudo-xanthoma elasticum, Ehlers-Danlos syndrome, progeria) are described with such clinical abnormalities. Reference is made to the possibility of unknown histological and chemical lesions weakening the vessels in patients without connective tissue disorders and presenting with arterial dissection or arterial aneurysm. So vessels would be more sensible to aging, arteriosclerosis or hypertension.     

Ruptured hepatic artery aneurysm: a novel approach to distal control

We describe a unique method for obtaining distal control in a ruptured hepatic artery aneurysm. A 34-year-old man with Ehlers-Danlos syndrome type IV presented with a ruptured left hepatic artery aneurysm. The distal aneurysm was within the parenchyma of the liver. Proximal control was obtained with pledgeted sutures. The distal hepatic artery was difficult to control. Injection of 5 mL of thrombin into the distal left hepatic artery resulted in hemorrhage control. This technique should be considered in select patients in whom distal arterial control is challenging.     

Varying presentations in patients with symptomatic type IV vascular Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) represents a group of inheritable connective tissue disorders. Patients with type IV or vascular EDS, autosomal dominant pattern of inheritance, may present with aneurysm formation or arterial dissection. Due to vessel fragility, operative therapy for such disorders has been reserved for compelling indications in which benefit clearly warrants risk, yet assessment of risk is largely clinical with operative decisions guided by factors such as response to previous operations and age at onset of index vascular complications. We present 2 patients with differences in their clinical presentations and outcomes and review the literature with emphasis on operative decision making.     

Emergency repair of type A aortic dissection in type IV Ehlers-Danlos syndrome

Ehlers-Danlos syndrome type IV is a distinctive syndrome in which thin and fragile skin, premature ageing, bruising and scarring are combined with lethal or life-threatening arterial weakness. Aortic rupture either at the aortic root and arch, or sometimes lower down the artery, are particularly characteristic. Even quite minor injury can produce dangerous vascular tearing and damage. Technical difficulties encountered in arterial repair or venous ligature are particularly worrying. The authors report the treatment of a ruptured type A aortic dissection associated with Ehlers-Danlos syndrome where the extreme fragility of the tissues and tendency to bleed posed a difficult task for the surgeon.     

Successful stent placement for cervical artery dissection associated with the Ehlers-Danlos syndrome. Case report and review of the literature

This 44-year-old man with Ehlers-Danlos syndrome (EDS) Type IV presented with hemiparesis and the Gerstmann syndrome. Left carotid artery (CA) angiography revealed a dissecting aneurysm with severe stenosis located in the common CA; the lesion was successfully treated with a stent graft. The patient's clinical course after endovascular surgery was uneventful, without occurrence of megacolon. The literature for spontaneous CA dissection in EDS Type IV cases is reviewed and points for investigation and treatment are discussed.     

Vertebral artery aneurysm: case report and review of the literature.

A nontender, nonpulsatile large anterior neck mass was found at operation to be an atherosclerotic aneurysm of the vertebral artery, an extremely rare condition. Proximal control and distal control were obtained and the aneurysm was excised. Aneurysms of the vertebral artery are infrequent but well-defined complications in connective tissue disorders such as the Ehlers-Danlos syndrome, and they can develop subsequent to penetrating neck trauma. However, no cases of atherosclertic vertebral artery aneurysms have been reported recently in the English-language literature. The case presented illustrates that this rare condition should be considered in all patients who have neck masses of undetermined etiology.     

Ruptured Dissecting Aneurysm in Bilateral Iliac Arteries Caused by Ehlers-Danlos Syndrome Type IV: Report of a Case

Ehlers-Danlos syndrome (EDS) is an inherited disorder of connective tissue characterized by hyperextensible skin, hypermobile joints, and ab-normalities of the cardiovascular system. Ten types and several subtypes of EDS have so far been recognized based on genetic, clinical, and biochemical characteristics. The spectrum of the disorder varies from mild to life-threatening vascular complications. EDS type IV is a particularly dangerous form with a lethal spontaneous rupture of the major arteries and aneurysmal formation. We present herein a case of a ruptured dissecting aneurysm in the bilateral iliac arteries caused by EDS type IV. A previously healthy 33-year-old man without any physical features of this connective tissue disorder experienced a metachronous vascular rupture two times. Successful synthetic bypass grafting was performed with great difficulty. The diagnosis of EDS type IV was made afterwards based on an electrophoresis analysis of a skin biopsy specimen which revealed a lack of type III collagen. Surgical intervention in cases of arterial complications in EDS type IV patients have been reported to be both difficult and frequently unsuccessful. The early clinical recognition of this syndrome is therefore of great importance due to the hazards of such surgical therapies. Received: November 16, 1999 / Accepted: July 25, 2000     

The Extreme Lateral Transcondylar Approach to Aneurysms of the Vertebrobasilar Junction, the Vertebral Artery, and the Posterior Inferior Cerebellar Artery

The unilateral suboccipital craniotomy is the commonly performed approach to aneurysms of the vertebrobasilar junction, the vertebral artery, and the posterior inferior cerebellar artery (PICA). Many of these aneurysms are placed anterior or anterolateral to the brain stem, necessitating brain stem retraction for adequate exposure. Small dorsolateral enlargement of the foramen magnum, partial resection of the occipital condyle, and removal of the jugular tubercle allow access to the neurovascular structures ventral to the medulla without retraction of the neuroaxis. This extreme lateral transcondylar approach was performed in 20 patients with aneurysms of the vertebrobasilar junction, the vertebral artery, and the PICA; intraoperatively, two suspected aneurysms proved to be vascular malformations. Occlusion of the aneurysm and vascular malformation was successfully performed in 16 patients, resection of the vascular malformation was achieved in 1 patient, and the vertebral artery was clipped in 3 patients with fusiform aneurysms without complications related to the extreme lateral transcondylar approach. Unobstructed exposure of the aneurysm, parent artery, and neural structures without retraction of the sensitive lower brain stem are the major advantages of the extreme lateral transcondylar approach.     

The extreme lateral transcondylar approach to aneurysms of the vertebrobasilar junction, the vertebral artery, and the posterior inferior cerebellar artery

The unilateral suboccipital craniotomy is the commonly performed approach to aneurysms of the vertebrobasilar junction, the vertebral artery, and the posterior inferior cerebellar artery (PICA). Many of these aneurysms are placed anterior or anterolateral to the brain stem, necessitating brain stem retraction for adequate exposure. Small dorsolateral enlargement of the foramen magnum, partial resection of the occipital condyle, and removal of the jugular tubercle allow access to the neurovascular structures ventral to the medulla without retraction of the neuroaxis. This extreme lateral transcondylar approach was performed in 20 patients with aneurysms of the vertebrobasilar junction, the vertebral artery, and the PICA; intraoperatively, two suspected aneurysms proved to be vascular malformations. Occlusion of the aneurysm and vascular malformation was successfully performed in 16 patients, resection of the vascular malformation was achieved in 1 patient, and the vertebral artery was clipped in 3 patients with fusiform aneurysms without complications related to the extreme lateral transcondylar approach. Unobstructed exposure of the aneurysm, parent artery, and neural structures without retraction of the sensitive lower brain stem are the major advantages of the extreme lateral transcondylar approach.     

Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome Type IV. Case report

Spontaneous bilateral carotid-cavernous fistulae and cervical artery dissection is reported in a 20-year-old woman with Ehlers-Danlos syndrome Type IV. The clinical features of 16 previously published cases of spontaneous carotid-cavernous fistulae associated with Ehlers-Danlos syndrome Type IV are reviewed, for a total of 17 cases. The mean age of the 14 women and three men was 31.6 years. Only direct fistulae were encountered. Diagnostic neuroangiography carried morbidity and mortality rates of 36% and 12%, respectively; neuroradiological treatment resulted in death in one of six patients. The possible value of desmopressin in the management of these patients is discussed. In view of the risks of arterial puncture and surgery, the authors emphasize the importance of early recognition of Ehlers-Danlos syndrome.     

Spontaneous arterial perforation: the Ehlers-Danlos specter

The Ehlers-Danlos syndrome (EDs) is one of the most frequently inherited disorders of connective tissue. Type IV EDs, the arterial-ecchymotic type, is of concern to vascular surgeons because it is frequently associated with spontaneous catastrophic bleeding. This article summarizes our experience with five members of a family and reviews the 31 patients with type IV EDs described in the literature. The 22 male and 14 female patients had a mean age of 26 years. The 36 patients included 23 with easy "bruisability," 22 with hypermobility of their joints (especially the fingers), 13 with transparent skin, and 11 with excessive elasticity of the skin. The patients had 41 episodes of hemorrhage and 29 vascular surgical procedures. Twenty-nine of the patients had an aneurysm or a dissection, whereas eight patients had arteriovenous fistulas. Arteriography was associated with a complication rate of 67%. The prognosis for a patient with type IV EDs is poor; 44% die before surgery and 19% die during the operative period. Bleeding should be managed nonoperatively when possible. Fifty-one percent die before reaching 40 years of age. Arteriography should be avoided. The standard repair of aneurysms and perforations is unlikely to be successful because of marked vessel friability. Bleeding vessels should be repaired with buttressed sutures and no tension or should be ligated. Genetic counseling with assay of collagen production is recommended for family members.     

Spontaneous mesenteric hemorrhage associated with ehlers-danlos syndrome

The vascular type of Ehlers-Danlos syndrome is a genetic disorder of connective tissue and is frequently associated with catastrophic arterial complications. Its surgical treatment is extremely difficult because of the fragility of vessels. This article describes three patients with vascular type of Ehlers-Danlos syndrome who developed mesenteric hemorrhage due to spontaneous arterial rupture. The clinical and molecular characteristics of the disease are briefly reviewed.     

Orthopaedic manifestations of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is the most prevalent heritable disorder of connective tissue. Musculoskeletal problems include joint pain, swelling and instability, and spinal deformity. This study was undertaken to assess functional orthopaedic problems of patients with Ehlers-Danlos syndrome. Sixty patients with genetically verified Ehlers-Danlos syndrome (range, 8-60 years; mean, 34 years) who attended a National Ehlers-Danlos Syndrome Foundation learning conference were evaluated by questionnaire, clinical examination, and when indicated, radiographs. A database of 250 items per patient was constructed and statistically assessed using analysis of variance. Because of rarity of Types VII and VIII, these two patients were dropped from the analysis. Fifty-eight patients had Ehlers-Danlos syndrome Types I, II, III, or IV and form the study cohort. Among these four types, there were no significant differences in history of joint dislocation, swelling, or types of orthopaedic surgical procedures experienced. Thirty patients with Type III Ehlers-Danlos syndrome reported joint pain more frequently than did patients with Types I, II, or IV. Ambulation was impaired significantly in patients with Type III disorder as a whole, as was functional hand strength and upper extremity function. Back or neck pain was a common (67.2%) report among patients with all types of disease but did not correlate with the presence or absence of spinal deformity. Contrary to most previous reports, the patients in this study showed that Type III Ehlers-Danlos syndrome was the most debilitating form with respect to musculoskeletal function.     

Operative and endovascular management of extracranial vertebral artery aneurysm in Ehlers-Danlos syndrome:a clinical dilemma--case report and literature review

The most prevalent lesion of the vertebral artery is an atheromatous plaque located at its origin from the subclavian artery. A case of successful management of a symptomatic vertebral artery aneurysm due to Ehlers-Danlos syndrome is reported. The patient had asymptomatic posterior intracerebral artery dissection on the contralateral side. A common carotid artery to V-3 segment bypass using reversed saphenous vein graft was carried out. Avulsion of the V-2 segment occurred peroperatively and endovascular coil embolization of the vertebral artery aneurysm was performed. Endovascular equipment and training must be in the armamentarium of vascular surgeons as more complex cases are being treated, which demands new approaches for ultimate clinical success. This unique case outlines what might unexpectedly occur. Endovascular intervention as an adjuvant procedure provides a satisfactory outcome in what could have been a catastrophe.