Micro-Arteriovenous Malformations of the Spine in Hereditary Hemorrhagic Telangiectasia

Excerpt

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease affecting between 1/5000 to 1/10,000 individuals in North American and Western European populations [1‐4]. Roughly 10–20% of HHT patients have brain arteriovenous malformations (AVM) and about 1% have spinal vascular malformations [3]. The HHT patients are unique in that they can develop three different types of brain AVMs including 1) nidal AVMs, 2) capillary vascular malformations and 3) pial arteriovenous fistulas. Capillary vascular malformations are the most common type of brain AVM in the HHT population and are considered pathognomonic for HHT [3]. In addition to capillary vascular malformations, HHT patients also have a higher frequency of micro-arteriovenous malformations, defined as lesions with a nidus size less than 1 cm, than the sporadic AVM population. Regarding spinal vascular malformations, HHT patients with spinal vascular malformations have invariably presented with single-holed or multi-holed perimedullary fistulas [2]. …