Imaging manifestations and interventional treatments for hereditary hemorrhagic telangiectasia

Andrew R. Kolarich, Alex J. Solomon, Christopher Bailey, Muhammad Aamir Latif, Nicholas R. Rowan, Panagis Galiatsatos, Clifford R. Weiss

Research output: Contribution to journalArticlepeer-review


Hemorrhagic hereditary telangiectasia (HHT) is a rare autosomal dominant disorder that causes multisystem vascular malformations including mucocutaneous telangiectasias and arteriovenous malformations (AVMs). Clinical and genetic screening of patients with signs, symptoms, or a family history suggestive of HHT is recommended to confirm the diagnosis on the basis of the Curaçao criteria and prevent associated complications. Patients with HHT frequently have epistaxis and gastrointestinal bleeding from telangiectasias. Pulmonary AVMs are common right-to-left shunts between pulmonary arteries and veins that can result in dyspnea and exercise intolerance, heart failure, migraine head-aches, stroke or transient ischemic attacks, brain abscesses, or in rare cases, pulmonary hemorrhage. Primary neurologic complications from cerebral AVMs, which can take on many forms, are less common but particularly severe complications of HHT. Multimodality imaging, including transthoracic echocardiog-raphy, Doppler US, CT, and MRI, is used in the screening and initial characterization of vascular lesions in patients with HHT. Diagnostic angiography is an important tool in characterization of and interventional treatments for HHT, particularly those in the lungs and central nervous system. A multidisciplinary approach to early diagnosis, treatment, imaging, and surveillance at high-volume HHT Centers of Excellence is recommended. Although a variety of idiopathic, traumatic, or genetic conditions can result in similar clinical and imaging features, the Curaçao criteria are particularly useful for the proper diagnosis of HHT. Imaging and treatment options are reviewed, with a focus on screening, diagno-sis, and posttreatment findings, with the use of updated interna-tional guidelines.

Original languageEnglish (US)
Pages (from-to)2157-2175
Number of pages19
Issue number7
StatePublished - Nov 1 2021

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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