Left colic artery aneurysm rupture after stent placement for abdominal aortic aneurysm associated with neurofibromatosis type 1
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Neurofibromatosis type 1 (NF1) is an autosomal dominant disease of the skin and soft tissue. Aneurysms associated with NF1 can occur, but a secondary aneurysm rupture is very rare, with very few cases reported in literature.
We describe the case of a 67-year-old female with NF1 who underwent endovascular aneurysm repair (EVAR) for an abdominal aortic aneurysm (AAA) rupture. She developed a type Ib endoleak requiring a redo-EVAR. Eighteen days after her primary operation, she was found to have two new left colic artery aneurysms. She required emergency surgery consisting of a left hemicolectomy and transverse colon colostomy. Pathology showed neurofibromatous changes to the peri-vasculature tissue, consistent with her underlying disease.
Although rare, secondary aneurysms can occur following AAA repair. Patients with soft tissue connective tissue disorders, like NF1, may be at an increased risk for development of these secondary aneurysms. Endovascular repair appears to be a safe approach for NF1 patients with AAA, but endovascular management can be challenging in the setting of NF1. Surgeons should be ready to convert to open surgery if the patient displays persistent signs of bleeding or structural changes related to connective tissue disorders like NF1.
KeywordsAneurysm Left colic artery Left hemicolectomy Neurofibromatosis type 1 von Recklinghausen disease
Abdominal aortic aneurysm
Endovascular aortic repair
Internal iliac artery
Inferior mesenteric artery
Inferior vena cava
Left colic artery
Middle colic artery
Neurofibromatosis type 1
Superior mesenteric artery
Superior rectal artery
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant disease of the skin and soft tissue that occurs in approximately 1 in 2500–3000 people [1, 2]. NF1 is caused by a genetic mutation in the NF1 gene, located on the long arm of chromosome 17 (17q11.2) . Typical signs of NF1 include café-au-lait macules , skinfold freckling , neurofibromas , brain tumors , and characteristic bony lesions . Moreover, patients with NF1 are at increased risk for scoliosis , vascular abnormalities , and cancer , including breast cancer .
Vascular abnormalities associated with NF1 occur in 0.4–6.4% of patients [13, 14] and most commonly involve the aorta, renal arteries, mesenteric arteries, and visceral arteries [15, 16]. There are some reports describing aortic aneurysms with NF1 , but secondary aneurysm rupture of the left colic artery (LCA) is a rare event, with few cases reported in the literature. In this case report, we describe our surgical experience with a brief review of other reported cases in the literature.
While vascular abnormalities associated with NF1 are rare, there are some reports of vascular complications related to NF1. In their series of 22 cases from 1978 to 2016, Uneda et al. characterized the presence of extracranial vertebral artery aneurysms associated with NF1 . Conforti et al. detected intracranial aneurysms in two of 39 patients with NF1 . De Santis et al. also described a radial artery aneurysm associated with NF1 . These studies describe the diagnosis and treatment of a primary aneurysm in a variety of sites. In contrast, our case is atypical in that we describe rupture of secondarily formed LCA aneurysms.
In analyzing the mechanism of the LCA aneurysms, it is essential to consider the disease of NF1 itself. Arterial lesions associated with NF1 are classified into two groups based on the diameter of the vessels . In the larger vessel groups, including the aorta and carotid arteries, the increase of neurofibromatous or ganglioneuromatous tissue, which surround the vessel, can cause the degeneration of the vascular intima and vascular media, leading to the arterial aneurysm. On the other hand, in the small vessel group, the degeneration of vascular smooth muscle and elastomer fibers and artery fibrosis directly contributed to artery dysplasia. Leier et al. also suggested that the increase of neurofibromatous or ganglioneuromatous tissue generates increased pressure in the peri-vascular vessels that supply large vessels such as the aorta, leading to ischemia of the large blood vessel walls resulting in aneurysm . Similar to these cases, we confirmed an increase of neurofibromatous tissue around the left colic artery aneurysms. There was no observed atherosclerosis as a cause of the AAA.
With many potential treatments available for arterial aneurysms, the treatment should be tailored to the patient’s underlying conditions and diseases. Moreover, aneurysms related to NF1 should be treated immediately to prevent rupture. In the present case, there was little time to prepare for the primary operation, and as a result, we performed EVAR twice. In the third operation, while coil embolization is usually considered first, we selected surgery. Coil embolization posed a significant technical difficulty due to two artery aneurysms located in sequential continuity within the left colic artery. In addition, the patient presented in extremis and in need of immediate intervention. Lastly, given her history of NF1, the integrity of coil embolization would be suspect in the setting of her diseased vessels. A left hemicolectomy was indicated for the surgical intervention due to the hematoma caused by the past abdominal aortic rupture and perivascular inflammation. Leaving the left colon and removing only the left colic aneurysms were considered to be of prohibitive risk in this case, as the blood flow to the left colon would have been significantly compromised. Insufficient blood flow is known to increase the possibility of intestinal necrosis and anastomotic leakage . Resection to the middle of the transverse colon was performed to minimize ischemia at Griffiths’ point, a known watershed area of vascular flow . Due to her hemodynamic instability and resuscitation, we elected to perform an end colostomy as a colorectal anastomosis would have a high risk of leak. Although indocyanine green (ICG) fluorescence as a means to evaluate colon viability  was considered, it was not performed since we did not have access to ICG during the emergency surgery in our institution at the time.
EVAR appears to be a safe approach for NF1 patients with AAA due to the extreme fragility of the vessel wall. However, endovascular management can be challenging at times, such as the case with our patient. Thus, the surgeon should be ready to consider open surgery in the settings of underlying connective tissue disease or emergency circumstances.
Availability of data and materials
HK, KA, KK, TO, and MoN are the surgeons who operated on the patient. The manuscript was drafted by KM, JT, YT, HI, MI, MiN, YS, HU, EG, and MT. TW supervised the preparation of this case report. All authors have read and approved the final manuscript.
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Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
The authors declare that they have no competing interests.
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- 13.Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, Lin AE, et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Am J Med Genet. 2002;4:105–11.Google Scholar
- 21.Conforti R, Cirillo M, Marrone V, Galasso R, Capaldo G, Giugliano T, et al. Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature. Neuropsychiatr Dis Treat. 2014;10:135–40.PubMedPubMedCentralGoogle Scholar
- 29.Ohno K, Sasaki K, Noda A, Miura R, Kyuno T, Fujita T, et al. 3D-CT angiography is a useful test for a splenic flexure colon cancer operation after an abdominal aortic graft replacement without reconstruction of the inferior mesenteric artery-a case report. J Jpn Soc Coloproctol. 2017;70:222–6.CrossRefGoogle Scholar
- 30.Shirako T, Yokoo N, Kitazumi Y, Ura K, Tanaka Y, Hamasu S, et al. A case of retroperitoneal hemorrhage caused by spontaneous arterial rupture in association with von Recklinghausen disease. JJAAM. 2003;14:62–6.Google Scholar
- 31.Shibazaki S, Tani N, Isobe T, Araki M, Sato T, Taniuchi N. Aneurysm rupture of lumbar artery without hypertension; neurofibromatosis type 1. J JPCA. 2016;39:37–9.Google Scholar
- 32.Vasiliu EC, Zarnescu NO, Costea R, Neagu S. Review of risk factors for anastomotic leakage in colorectal surgery. Chirurg. 2015;110:319–26.Google Scholar
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