Hereditary Hemorrhagic Telangiectasia: The Convergence of Genotype, Phenotype, and Imaging in Modern Diagnosis and Management of a Multisystem Disease.
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- Record sourced from PubMed, PMID 33973836.
- Also identified by DOI 10.1148/radiol.2021203487.
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Abstract
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that manifests as vascular malformations in the brain, lung, liver, gastrointestinal tract, nasal mucosa, and skin. Diagnosis and management of HHT is guided in large part by imaging studies, making it a condition with which the radiology community needs familiarity. Proper screening and care lead to improved morbidity and mortality in patients with HHT. International guidelines were recently updated and form the basis for a detailed discussion of the role of imaging and image-guided therapy in HHT. © RSNA, 2021 <i>Online supplemental material is available for this article.</i>
Medical subject headings
- Diagnostic Imaging
- Telangiectasia, Hereditary Hemorrhagic