Search
Print this page
October 27, 2005
Back to Program
Gustavo S. Oderich, MD, Timothy M. Sullivan, MD, Peter Gloviczki, MD, Thomas C. Bower, MD, Thanila A. Macedo, MD, Audra A. Noel, MD, Dudica Babovic-Vuksanovic, MD, Manju Kalra, MBBS, Anthony Stanson, MD.
Mayo Clinic, Roschester, MN, USA. Background: Neurofibromatosis syndrome type I (NF-I) is an autosomal dominant disorder affecting one in 3,000 individuals. Vascular abnormalities of medium and large-sized arteries and veins are a well recognized (albeit rare) feature of NF-I. The purpose of this study is to review the spectrum, management, and clinical outcome of vascular abnormalities in patients with NF-I.
Methods: We retrospectively reviewed a cohort of 29 patients (14 male and 15 female) with clinical diagnosis of NF-I and vascular abnormalities identified on the basis of imaging or operative findings over a 30 year period (1976 to 2005). Abnormalities were classified into one of two groups: degenerative (e.g. atherosclerotic) and non-degenerative (e.g. arteriovenous malfomation, vascular dysplasia, arterial compression or tumor invasion).
Results: The mean age at time of NF-I diagnosis was 11 ± 10 years (range, 0 to 40 years). Twenty-two patients had 34 non-degenerative vascular abnormalities diagnosed at a mean age of 27 ± 16 years (range, 3 to 73 years). These included 20 aneurysms (visceral-renal, 7; carotid-vertebral, 5; cerebral, 3; internal jugular vein, 2; and aortic, subclavian and lumbar artery, 1 each), 14 arterial stenoses (renal, 7; visceral, 4; and abdominal aorta, 3), 5 arteriovenous malformations, and 5 arterial compression/ invasion by adjacent tumor. Seven patients had 11 degenerative aneurysms (aorta, 9; iliac, 2; axillary, 1) diagnosed at a mean age of 73 ± 3 years (range, 68 to 77 years). Twenty patients (72%) required operative treatment for symptomatic lesions (15) or large/ ruptured aneurysms (6). Thirteen patients had revascularization procedures, including renal revascularization (5), abdominal aortic grafting (4), abdominal aortoplasty (3), and carotid-subclavian, carotid-carotid, and femoral interposition graft (1 each). Three patients had excision of arteriovenous malformations. Ligation of the subclavian artery with resection of neurofibroma, ligation of the internal jugular vein with excision of a giant venous aneurysm, clipping of cerebral aneurysm and coil embolization of hepatic artery aneurysm was required in 1 patient each. There was 1 intraoperative death from hemorrhagic shock in a patient with ruptured abdominal aortic aneurysm. Major morbidity occurred in two patients and included a large hemispheric stroke after cerebral aneurysm clipping and acute acalculous cholecystitis following hepatic artery branch embolization. After a mean follow up of 6.2 years (range, 0 to 25 years), 2 patients developed late graft thromboses, which required redo renal and visceral revascularization. Six patients died due to malignancy (4), ruptured ascending aortic aneurysm (1) and unknown cause (1).
Conclusion: Patients with NF-I had a wide spectrum of vascular abnormalities, most commonly non-degenerative aneurysms, stenoses, and arteriovenous malformations. Postulated mechanisms include vascular dysplasia predisposing to aneurysm formation or arterial thickening, and arterial compression or invasion by adjacent tumor. Operative treatment of symptomatic lesions is safe and associated with excellent long-term results.
Back to Annual Meeting
Back to Program
Vascular abnormalities in patients with neurofibromatosis syndrome type I: Clinical spectrum, management and results
Back to Annual MeetingBack to Program
Gustavo S. Oderich, MD, Timothy M. Sullivan, MD, Peter Gloviczki, MD, Thomas C. Bower, MD, Thanila A. Macedo, MD, Audra A. Noel, MD, Dudica Babovic-Vuksanovic, MD, Manju Kalra, MBBS, Anthony Stanson, MD.
Mayo Clinic, Roschester, MN, USA. Background: Neurofibromatosis syndrome type I (NF-I) is an autosomal dominant disorder affecting one in 3,000 individuals. Vascular abnormalities of medium and large-sized arteries and veins are a well recognized (albeit rare) feature of NF-I. The purpose of this study is to review the spectrum, management, and clinical outcome of vascular abnormalities in patients with NF-I.
Methods: We retrospectively reviewed a cohort of 29 patients (14 male and 15 female) with clinical diagnosis of NF-I and vascular abnormalities identified on the basis of imaging or operative findings over a 30 year period (1976 to 2005). Abnormalities were classified into one of two groups: degenerative (e.g. atherosclerotic) and non-degenerative (e.g. arteriovenous malfomation, vascular dysplasia, arterial compression or tumor invasion).
Results: The mean age at time of NF-I diagnosis was 11 ± 10 years (range, 0 to 40 years). Twenty-two patients had 34 non-degenerative vascular abnormalities diagnosed at a mean age of 27 ± 16 years (range, 3 to 73 years). These included 20 aneurysms (visceral-renal, 7; carotid-vertebral, 5; cerebral, 3; internal jugular vein, 2; and aortic, subclavian and lumbar artery, 1 each), 14 arterial stenoses (renal, 7; visceral, 4; and abdominal aorta, 3), 5 arteriovenous malformations, and 5 arterial compression/ invasion by adjacent tumor. Seven patients had 11 degenerative aneurysms (aorta, 9; iliac, 2; axillary, 1) diagnosed at a mean age of 73 ± 3 years (range, 68 to 77 years). Twenty patients (72%) required operative treatment for symptomatic lesions (15) or large/ ruptured aneurysms (6). Thirteen patients had revascularization procedures, including renal revascularization (5), abdominal aortic grafting (4), abdominal aortoplasty (3), and carotid-subclavian, carotid-carotid, and femoral interposition graft (1 each). Three patients had excision of arteriovenous malformations. Ligation of the subclavian artery with resection of neurofibroma, ligation of the internal jugular vein with excision of a giant venous aneurysm, clipping of cerebral aneurysm and coil embolization of hepatic artery aneurysm was required in 1 patient each. There was 1 intraoperative death from hemorrhagic shock in a patient with ruptured abdominal aortic aneurysm. Major morbidity occurred in two patients and included a large hemispheric stroke after cerebral aneurysm clipping and acute acalculous cholecystitis following hepatic artery branch embolization. After a mean follow up of 6.2 years (range, 0 to 25 years), 2 patients developed late graft thromboses, which required redo renal and visceral revascularization. Six patients died due to malignancy (4), ruptured ascending aortic aneurysm (1) and unknown cause (1).
Conclusion: Patients with NF-I had a wide spectrum of vascular abnormalities, most commonly non-degenerative aneurysms, stenoses, and arteriovenous malformations. Postulated mechanisms include vascular dysplasia predisposing to aneurysm formation or arterial thickening, and arterial compression or invasion by adjacent tumor. Operative treatment of symptomatic lesions is safe and associated with excellent long-term results.
Back to Annual Meeting
Back to Program
© 2009 Copyright Southern Association for Vascular Surgery