Intraoral Excision and Preoperative Embolization of a Von Hippel-Lindau Disease–associated Facial Arteriovenous Malformation

Sir,

We have recently managed the case of a 38-year-old woman with genetically proven Von Hippel-Lindau (VHL) disease, who developed a growing, pulsatile lesion on her left upper lip, confirmed as an arteriovenous malformation (AVM). Although she exhibited many of the classical manifestations associated with the disease, including recurrent pheochromocytomas, a retinal angioma, and cerebellar hemangioblastoma, AVM was not a noted feature.

The AVM was confirmed angiographically and managed with Onyx (Medtronic, Irvine, CA) embolization,¹ administered preoperatively by interventional radiology. Subsequent surgical resection, through an intraoral route, was performed 4 days later (Fig. 1). AVMs of the face can be extensive and can cause significant deformity. The novel strategy used here resulted in a reduction in the size of the AVM, a clearer delineation of the lesion, and an excellent scar placement. With a firm lesion, blunt dissection could be performed with protection of facial nerve branches. The result was minimal disruption of facial soft tissue volume and a favorable cosmetic outcome (Fig. 2).

Fig. 1.

An intraoperative photograph demonstrating excision of the embolized AVM as a solid mass through an intraoral route.

Fig. 2.

A satisfactory postoperative result taken at 6-month follow-up with minimal soft tissue disruption and asymmetry.

The VHL disease is an autosomal-dominant inherited syndrome seen in approximately 1 in 36,000 individuals.² It results from germline mutations in the VHL tumor suppressor gene and is characterized by highly vascularized tumors,² including hemangioblastomas of the cerebellum and spine, retinal angiomas, renal cell carcinomas, pheochromocytomas, endolymphatic sac tumors, and neuroendocrine tumors of the pancreas.² To date, there is no literature describing AVMs as part of the VHL syndrome; however, given that the genetic defect promotes angiogenesis via hypoxia-inducible factor, we suggest that the 2 processes are likely to be linked.³

AVMs are often presumed to be congenital, but there is no direct evidence that they form in utero. Although a small number of AVMs manifest themselves at or shortly after birth, most of them present later in life with the mean age of detection being the mid-30s.⁴ In this case, the tissue sample is disrupted by embolization; thus, it is not suitable for analysis to detect loss of heterozygosity of the VHL gene to confirm pathogenicity.

The potential association between AVMs and VHL disease has significant implications. The pheochromocytoma-associated catecholamine excess may be associated with hypertensive crises and intraoperative hemodynamic instability. Although we do not advocate genetic testing for a VHL mutation in every case of AVM, it would be prudent to ensure that the patient is normotensive before any surgical intervention to avoid missing catecholamine-associated hypertension from an occult pheochromocytoma, however rare.

DISCLOSURE:

The authors have no financial interest to declare in relation to the content of this article.