Sack-Barabas syndrome
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The Sack-Barabas syndrome, the vascular type of Ehlers-Danlos syndrome Type IV, is considered the most serious forms of Ehlers-Danlos syndrome as the vascular system is doomed to aneurysmatic degeneration and rupture without preference of anatomic regions.
Herein, we report of a patient with Sack-Barabas syndrome who was escorted by a vascular surgeon for 16 years on his way, from the first of many operations until death at the age of 27 years.
[edit] Introduction
The German physician Georg Sack and the British surgeon A.P.Barabas first described the syndrome in the 20th century. Ehlers-Danlos syndrome is a group of inherited disorders affecting the connective tissue. The vascular type is considered one of the most serious forms of Ehlers-Danlos syndrome because blood vessels and organs are prone to rupture. This condition was formerly called type IV Ehlers-Danlos syndrome, and is now known as Sack-Barabas syndrome (SBS). Patients with the disorder have thin, fragile skin that bruises easily; hands and feet may have an aged appearance. Unlike patients with other forms of Ehlers-Danlos syndrome, patients with the vascular type have skin that is soft but not overly stretchy. Facial features are often distinctive, including protruding eyes, a thin nose and lips, sunken cheeks, and a small chin. Other signs of the disorder include hypermobility of joints, tearing of tendons and muscles, painfully swollen veins in the legs, lung collapse, and slow wound healing following injury or surgery. Infants with the condition may be born with hip dislocations and clubfeet. Unpredictable ruptures of arteries and organs are serious complications of SBS syndrome. Ruptured arteries can cause internal bleeding, stroke, or shock, the most common cause of death in patients with this disorder. Rupture of the intestine is seen in 25 to 30 percent of affected individuals and tearing of the uterus during pregnancy affects 2 to 3 percent of women. Although these symptoms are rare in childhood, more than 80 percent of patients experience severe complications by the age of 40. Teenage boys are at high risk for arterial rupture, often being fatal. Herein, we report the case of a patient initially presenting at the age of 11 with a iliac aneurysm rupture and life long follow up and interventions.
[edit] One case report to understand the seriousness
The first presentation of the patient to a vascular surgeon was in 1988. The vascular surgeon on call was called to assess an eleven years old boy with a painfully pulsing mass in his left groin. CT-scan and angiography showed bilateral iliac artery aneurysms, the left in rupture. Additionally, multiple asymptomatic aneurysms of the superior mesenteric, the common hepatic and both renal arteries were present. The beginning of many surgical interventions to follow was an acute aorto-bifemoral bypass. After a recovery period of 3 month the intestinal aneurysms were managed by resection and PTFE graft interposition of the superior mesenteric, the common hepatic and the right renal artery. The aneurysmatic splenic artery was ligated, no splenectomy was performed. The resected aneurysm walls were histologically analysed and SBS was verified. Our patient was a sporadic case of SBS, caused by new mutations in one copy of the COL3A1 gene, as screening of all family members was negative. The right renal artery and celiac axis graft interposition suffered from an occlusion after two weeks. Right nephrectomy was necessary due to major necrosis. Liver ischemia did not indicate intervention and was managed conservatively. Subsequently, the patient recovered and was discharged home on dual antihypertensive therapy. In 1990 bilateral diffuse extracranial vertebral aneurysms were detected due to pulse synchronous neck- and headache and were treated by carotid vertebral C1-bypasses. In 1997 a Hemobahn stentgraft was implanted in a left brachial artery aneurysm and the cubital artery on the same side needed to be interponed with a PTFE-graft because of a large local aneurysm causing severe discomfort. The following year the lower extremity on the left side became symptomatic with claudication caused by a superficial femoral artery aneurysm and a Hemobahn stentgraft was implanted by cut down incision into the common femoral artery. In 1999 the patient returned with therapy-resistant pulse synchronous left sided cluster headache, caused by a symptomatic aneurysm of the left intrasphenoideal internal carotid artery. Exclusion with a Hemobahn stentgraft by cutdowntechnique through the common carotid artery was attempted unsuccessfully. Ultimately, the aneurysm had to be excluded by coil embolisation and the internal carotid artery was ligated. The patient suffered from a transient aphasia lasting 24 hours. In the same 5 year a claudication of the right leg required a Hemobahn stentgraft to be implanted in an aneurysmatic right common and superficial femoral artery. For both lower extremities, the causes of claudication were thromboembolic events originated in the femoral aneurysms. The last interventions were in the 2001. Motoric and sensational dysfunctions of the left upper extremity required the left brachial artery redo–PTFE-graft interposition. The right upper extremity was asymptomatic but large right subclavian and brachial artery aneurysms were stentgrafted with Hemobahn prosthesis due to impending rupture. In 2004, the patient was 27 years old. He suffered from claudication (50m walking distance) from 1998 on without the possibility of revascularisation. He was content with his quality of life and working regularly. Except acetylsalicylic acid, he was on no medication. The angiography of the visceral arteries and the extremities performed in July 2004 did not show any vascular alterations indicating surgery. In August 2004 the patient was admitted with severe epigastric pain, hypotension and collapse. An abdominal CT without contrast- due to a creatinine over 6 mg% - depicted free fluid in the left upper abdomen and calcified aneurysms of the upper mesenteric artery and celiac axis. The patient was immediately transferred to theatre for emergency surgery of a suspected aneurysm rupture of the splenic artery ligated in 1988. The patient deceased on the way to theatre, 16 years after he was operated the first time. All surgical interventions in this period were performed by one vascular surgeon.
[edit] Finally
Sack-Barabas syndrome, the vascular manifestation of Ehlers-Danlos syndrome is rare and has an estimated prevalence of 1 in 100,000 to 200,000 and is caused by mutations in the COL3A1 gene. The protein determined by the COL3A1 gene is used to assemble larger type III collagen molecules. Collagens provide structure and strength to connective tissue throughout the body. Type III collagen is mostly found in skin, blood vessels, and internal organs. If the structure or production of type III collagen is altered by a mutation in the COL3A1 gene, collagen fibrils cannot be assembled properly in these tissues, and the symptoms of Ehlers-Danlos syndrome result. The condition is inherited in an autosomal dominant pattern, which means only one copy of the altered gene is necessary to cause the disorder. About half of all cases are inherited from a parent who has the condition. The other half of cases occurs in patients whose families have no history of the disorder. These sporadic cases are caused by new mutations in one copy of the COL3A1 gene. The tests to verify the disease are biochemical samples such as collagen typing (performed on a skin biopsy sample) or collagen gene mutation testing. There is no cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for accordingly. The initial clinical manifestation of vascular problems in patients with SBS is early, about 25% have their first presentation at age 20 and more than 80% of patients in a large cohort have had at least one complication by the age of 40. The median survival of the entire cohort was only 48 years. Genetic counselling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome. Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance. Recognition of this syndrome is necessary because of increased risk of premature death due to rupture of arteries, bowel or uterine rupture in pregnant women with a reported mortality rate of 50%. The key for managing these patients is to be aware of their disease and escort them through complications, plan surgical procedures and pregnancy in affected women. As the reported case demonstrates, close follow up and planning of interventions can significantly prolong and maintain the quality of live of a patient plagued with this disease.
