Asian Cardiovasc Thorac Ann 2007;15:342-344
© 2007 Asia Publishing EXchange Ltd
Spontaneous Hemothorax and Neurofibromatosis: A Review of a Lethal Combination
Lynn M Fedoruk, MD,
John English, FRCPC1,
Guy J Fradet, FRCSC
Division of Cardiovascular Surgery, University of British Columbia
1 Division of Pathology and Laboratory Medicine, Vancouver Hospital and Health Sciences Center, Vancouver, Canada
For reprint information contact: Lynn M Fedoruk, MD Tel: 1 604 806 9913 Fax: 1 604 877 0977 Email: lfedoruk{at}telus.net, St. Paul’s Hospital, 458 Burrard Building, 1081 Burrard Street, Vancouver, B.C. V6Z 1Y6, Canada.
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ABSTRACT
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We present a case report of spontaneous hemothorax associated with neurofibromatosis. On review of the literature, a significant mortality rate of 36% is revealed in addition to a surgical mortality of 33%. Treatment options are reviewed and potential management strategies are discussed.
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INTRODUCTION
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Neurofibromatosis is an autosomal dominant disease most commonly characterized by the multiple café-au-lait spots and fibromas present on the patient. Unfortunately, it is also associated with often unrecognized but well described vascular involvement.
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CASE REPORT
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A 48-year-old female was awakened from sleep by intrascapular pain then collapsed. After cardiopulmonary resuscitation and fluid, blood pressure was established and the patient transported to the local hospital. Chest radiograph demonstrated a left hemothorax. An initial computed tomography (CT) scan was interpreted as type B aortic dissection. Local physicians placed a left chest tube and initiated transport to our facility. After ongoing losses, the patient deteriorated, requiring intubation, and resuscitation. The chest tube was clamped and continuous fluid resuscitation was required during transport to maintain adequate blood pressure. On arrival at our facility, the patient required further fluid resuscitation. The CT was re-read and no dissection or obvious source of bleeding was seen. We proceeded to the operating room for exploratory left thoracotomy because of persistent bleeding and clinical instability. The patient’s past medical history was significant for neurofibromatosis.
The bleeding site was identified as a disruption of the left subclavian artery/internal thoracic artery junction. Examination of the area revealed tissue masses and clots present in the region of the arterial bleed (Figure 1
). Multiple attempts at primary suture repair were made but due to extreme friability and brittleness, the artery was oversewn.
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Figure 1. Photograph of the apical region of the left hemithorax through the thoracotomy incision. A: descending aorta immediately beyond the arch, P: pledgets on the subclavian artery, T: tumor mass diagnosed as diffuse neurofibroma.
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The postoperative course was unremarkable with one exception: blindness was present at emergence from anesthesia, presumably secondary to optic nerve ischemia from hypotension. On pathologic examination, the tissue consisted of fat that was diffusely hemorrhagic. Interspersed throughout the fat were anastomosing strands of a fibrillary collagenous and myxoid matrix containing short fusiform cells. The S100 protein immunohistochemical stain highlighted the cells and revealed fine dendritic processes (Figure 2). Rare structures consistent with Wagner-Meissner bodies were identified. These pathologic features were consistent with diffuse neurofibroma.
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Figure 2. 250x S100 protein immunohistochemical stain highlighting the thin, tapering dendritic processes of the tumor cells within the surrounding tissue matrix.
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DISCUSSION
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Neurofibromatosis (NF) (von Recklinghausen disease) has been divided into eight subtypes. Only two subtypes are well recognized, with the most common form defined as NF-1 (peripheral NF). It is inherited in an autosomal dominant pattern with an occurrence rate of 1 in 3000. Half the cases appear to be sporadic.1 The gene locus responsible for NF-1 is found on the long arm of chromosome 17 (17q11.2) and expresses a protein designated as neurofibromin1. Other forms of NF are rare and will not be discussed.
Vascular involvement in the setting of NF is well described. An incidence of 3.6% has been suggested2,3 and case reports demonstrate both large and small vessel involvement including the abdominal aorta, brachial, and most commonly renal arteries. There are 25 cases of spontaneous hemothorax/hemomediastinum reported.2–5 Cases involving the subclavian artery (8), intercostal arteries (7), thyrocervical trunk (2), and internal thoracic artery (2) have been documented. Multiple causes of vascular weakness in NF-1 have been advanced. Some have proposed mesodermal dysplasia as the cause while others suggest that direct vascular invasion is the reason for the loss of vascular integrity and rupture.5 It has been demonstrated that large vessel aneurysm formation is secondary to the direct invasion of the vessel wall by neurofibroma tissue,6 compressing the vasovasorum with resultant wall weakness secondary to ischemia. Ultimately, aneurysmal dilatation results.5,6 Saitoh has also demonstrated the direct invasion of a brachial artery wall and the replacement of the adventitial layer with tumorous tissue.6 Small vessel involvement is thought to be secondary to a different process. Small vessels are thought to have a dysplasia in the wall itself consisting of fibrohyaline thickening of the intima and muscularis that causes stenotic narrowing and subsequent significant weakening of the arterial wall.5 This also leads to increased friability.
Of the 25 cases in the literature, 15 underwent surgical exploration with 5 operative deaths. Three were diagnosed at autopsy after sudden death. The remaining 7 were treated conservatively: two with chest tube and supportive care as there was no ongoing bleeding,4 one conservatively who died after a secondary bleed, and four with endovascular embolization after chest tube insertion.2,3,7,8 The mortality rate as reported in the literature was 36%4 with an operative mortality of 33%. The more recent reports of coil embolization have all had successful outcomes.
Ultimately the treatment options in spontaneous hemothorax are dependent on the hemodynamic stability. Instability mandates urgent surgical control of the intrathoracic hemorrhage after initial resuscitation. Unfortunately the vessels associated with NF-1 are friable making surgical control extremely difficult. Whenever a patient demonstrates reasonable stability, urgent angiography with percutaneous embolization presents a potential primary option for management and thus far has demonstrated a superior outcome to surgery.2,3,7,8 Consideration must be given to prevention of this presentation given the prohibitive mortality. With improving CT angiogram capabilities, it is reasonable to consider surveillance of this group of patients as vessels as small as intercostals are easily visualized. Any evidence of aneurysmal disease in the vessels of the thorax should be aggressively managed percutaneously by coil embolization to prevent future rupture.
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REFERENCES
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- Riccardi VM. Neurofibromatosis: past, present, and future. N Engl J Med 1991;324:1283–5.[Medline]
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- Nopajaroonsri C, Lurie AA. Venous aneurysm, arterial dysplasia, and near-fatal hemorrhages in neurofibromatosis type 1. Hum Pathol 1996;27:982–5.[Medline]
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- Dominguez J, Sancho C, Escalante E, Morera JR, Moya JA, Bernat R. Percutaneous treatment of a ruptured intercostal aneurysm presenting as massive hemothorax in a patient with type I neurofibromatosis. J Thorac Cardiovasc Surg 2002;124:1230–2.[Free Full Text]
- Morello F, Shah P, Dowling K, Siskin G. A hemorrhagic complication of neurofibromatosis. J Vasc Interv Radiol 2001;12:773–4.[Medline]
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ABSTRACT
INTRODUCTION
