Imaging to intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a disorder that affects 1 in 5000-10,000 people worldwide and can result in devastating complications such as cerebral abscess, stroke, massive hemorrhage, and even death. HHT is an autosomal dominant disorder that leads to the formation of abnormal communication between the arteries and veins with a resultant spectrum of vascular anomalies. The disorder affects many organ systems and thus requires a dedicated multidisciplinary approach. Interventional radiologists are vital members of this team providing expertise not only in disease management, but in complex embolotherapy, helping to maintain the health of these patients. This article reviews clinical manifestations, screening guidelines, diagnostic criteria, and endovascular management of HHT.

Fig. 1

A and B 3 yo male with left perimedullary fistula. Lateral and axial T2 weighted images of the spinal show similar findings. There is abnormal high T2 signal within the spinal cord (white arrow) surrounding the venous varix

Fig. 2

A and B 3 yo male with left perimedullary fistula. Left T10 intercostal angiogram in the AP and lateral projections shows an enlarged radiculomedullary artery (small arrow) filling a venous varix (thick black arrow) corresponding to the CTA and MRI images. C and D Selective microcatheter injection in the AP and lateral projections (black arrow) in the venous varix shows filling of the varix and surrounding perimedullary venous plexus

Fig. 3

A and B 45-year-old male who presented with uncontrollable epistaxis. AP and lateral right internal maxillary angiogram show a prominent blush over the right nasal cavity (small black arrow) with areas of prominent pooling of contrast (thick black arrow)

Fig. 4

A and B AP and lateral right internal maxillary angiogram after embolization of the distal branches of the internal maxillary artery with 300–500 μm embospheres and gelfoam pledgets shows truncation of the distal internal maxillary artery (small black arrow) with no vascular blush

Fig. 5

A Coronal CT with contrast shown in a maximum intensity projection demonstrates a simple pulmonary AVM in the left lower lobe (arrow). B Digital subtraction angiography demonstrating a complex pulmonary AVM in the right middle lobe with multiple feeding subsegmental pulmonary arteries. C Digital subtraction angiography post coil embolization of the complex right middle lobe pulmonary AVM demonstrating no flow through the PAVM. D Follow-up chest x-ray in the same patient demonstrating the coil pack in the embolized right middle lobe PAVM

Fig. 6

Axial CT with contrast of a 45-year-old woman with HHT demonstrates innumerable enhancing arteriovenous malformations throughout the liver parenchyma. Partially visualized is hypertrophy of the celiac artery

Fig. 7

Manifestations of Hepatic Vascular Malformation Shunts. Hepatic artery to hepatic vein shunts can result in biliary ischemia and necrosis due to the single blood supply to the biliary system from the peribiliary plexus via the hepatic artery. Shunting to the hepatic vein such as through hepatic artery to hepatic vein shunting and portal vein to hepatic vein shunting, contribute to high output heart failure. Hepatic artery to portal vein shunts leads to portal hypertension

Fig. 8

A and B Axial CT images with contrast of a 77-year-old female with HHT and portal hypertension showing cirrhotic features due to pseudocirrhosis. Findings consistent with HHT and portal hypertension including ascites, hypertrophy of the caudate lobe, portal venous enlargement, and varices

Fig. 9

A and B 12-year-old boy with heterozygous ENG mutation hereditary hemorrhagic telangiectasia and a cerebral capillary vascular malformation. A Late arterial phase lateral projection digital subtraction angiogram of the left internal carotid artery demonstrates a sub centimeter focus of ectasia and blush without arteriovenous shunting in the medial aspect of the left frontal lobe (arrow). B Axial FLAIR sequence showing corresponding focus (arrow)

Fig. 10

32-year-old male who present with a headache. Axial and Coronal T2 weighted images show a cortical nidal AVM within the posterior right frontal lobe measuring 2.5 cm (white arrow)